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1. Long-term evolution of humoral immune response after SARS-CoV-2 infection

Author

Elisa, Teyssou, Karen, Zafilaza, Sophie, Sayon, Stéphane, Marot, Margot, Dropy, Cathia, Soulie, Basma, Abdi, Florence, Tubach, Pierre, Hausfater, Anne-Geneviève, Marcelin, David, Boutolleau, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), BIOSFAST [CHU Pitié-Salpêtrière] (GRC 14), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), and Centre National de Référence Herpèsvirus [CHU Pitié Salpêtrière]

Subjects
Microbiology (medical), COVID-19 Vaccines, SARS-CoV-2, COVID-19, General Medicine, Antibodies, Viral, Antibodies, Neutralizing, Immunity, Humoral, Immunoglobulin A, Infectious Diseases, Immunoglobulin G, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, ComputingMilieux_MISCELLANEOUS
Abstract

We aimed to characterize the evolution of humoral immune response up to 1 year after SARS-CoV-2 infection in healthcare workers (HCWs) during the first wave of COVID-19 in Paris.Serum samples from 92 HCWs were tested at month 0 (M0), M6, and M12 after SARS-CoV-2 infection for IgG targeting the nucleocapsid (N), IgG targeting the receptor-binding domain (RBD) of spike (S) protein, IgA targeting S, and anti-RBD neutralizing antibodies. After M6, 46 HCWs received a single dose of COVID-19 vaccine.We observed a significant decrease in all SARS-CoV-2 immunologic markers at M6 post-infection: median decreases were 0.26 log binding antibody units/mL (M0: 1.9 (interquartile range (IQR) 1.47-2.27); M6: 1.64 (IQR 1.22-1.92)) for anti-RBD IgG; 4.10 (index) (M0: 4.94 (IQR 2.72-6.82); M6: 0.84 (IQR 0.25-1.55)) for anti-N IgG; 0.64 (index) (M0: 2.50 (IQR 1.18-4.62); M6: 1.86 (IQR 0.85-3.54)) for anti-S IgA; and 24.4% (M0: 66.4 (IQR 39.7-82.5); M6: 42.0 (IQR 16.8-68.8)) inhibition activity for the RBD neutralizing antibodies. Between M6 and M12, anti-RBD IgG level, anti-S IgA index, and anti-RBD neutralizing activity significantly increased among COVID-19 vaccinated HCWs, whereas they remained stable among unvaccinated HCWs. Anti-N IgG index significantly decreased between M6 and M12 among both vaccinated (median: 0.73 (IQR 0.23-1.11) at M6 and 0.52 (IQR 0.20-0.73) at M12) and unvaccinated HCWs (median: 0.79 (IQR 0.21-4.67) at M6 and 0.34 (IQR 0.24-2.78) at M12).A steady decline in the anti-N IgG response was observed during the first year after SARS-CoV-2 infection among HCWs, whereas the anti-RBD IgG and the anti-S IgA responses remained stable and could be enhanced by COVID-19 vaccination.

Published
2022

2. No difference in HIV-1 integrase inhibitor resistance between CSF and blood compartments

Author

Elisa Teyssou, Roland Tubiana, Vincent Calvez, Cathia Soulié, Anne Simon, Marc Wirden, Romain Palich, Sophie Sayon, Anne-Geneviève Marcelin, Mouna Chebbi, Christine Katlama, Basma Abdi, Marc-Antoine Valantin, and Sophie Seang

Subjects
Microbiology (medical), Population, Integrase inhibitor, HIV Infections, HIV Integrase, medicine.disease_cause, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Drug Resistance, Viral, medicine, Humans, Pharmacology (medical), HIV Integrase Inhibitors, 030212 general & internal medicine, education, Pharmacology, 0303 health sciences, Mutation, education.field_of_study, biology, 030306 microbiology, business.industry, Inhibitor resistance, RNA, Virology, 3. Good health, Integrase, Infectious Diseases, HIV-1, Hiv 1 integrase, biology.protein, Recombinant DNA, business
Abstract

BackgroundLittle is known about HIV-1 integrase inhibitor resistance in the CNS.ObjectivesThis study aimed to evaluate integrase inhibitor resistance in CSF, as a marker of the CNS, and compare it with the resistance in plasma.MethodsHIV integrase was sequenced both in plasma and CSF for 59 HIV-1 patients. The clinical and biological data were collected from clinical routine care.ResultsAmong the 59 HIV-1 patients, 32 (54.2%) were under antiretroviral (ARV) treatment. The median (IQR) HIV-1 RNA in the plasma of viraemic patients was 5.32 (3.85–5.80) and 3.59 (2.16–4.50) log10 copies/mL versus 4.79 (3.56–5.25) and 3.80 (2.68–4.33) log10 copies/mL in the CSF of ARV-naive and ARV-treated patients, respectively. The patients were mainly infected with non-B subtypes (72.2%) with the most prevalent recombinant form being CRF02_AG (42.4%). The HIV-1 integrase sequences from CSF presented resistance mutations for 9/27 (33.3%) and 8/32 (25.0%) for ARV-naive (L74I, n = 3; L74I/M, n = 1; T97A, n = 1; E157Q, n = 4) and ARV-treated (L74I, n = 6; L74M, n = 1; T97A, n = 1; N155H, n = 1) patients, respectively. Integrase inhibitor resistance mutations in CSF were similar to those in plasma, except for 1/59 patients.ConclusionsThis work shows similar integrase inhibitor resistance profiles in the CNS and plasma in a population of HIV-1 viraemic patients.

Published
2021

3. The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis

Author

Elisa Teyssou, Laura Chartier, Delphine Roussel, Nirma D. Perera, Ivan Nemazanyy, Dominique Langui, Mélanie Albert, Thierry Larmonier, Safaa Saker, François Salachas, Pierre-François Pradat, Vincent Meininger, Philippe Ravassard, Francine Côté, Christian S. Lobsiger, Séverine Boillée, Bradley J. Turner, Danielle Seilhean, Stéphanie Millecamps, MILLECAMPS, Stéphanie, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Banque d’ADN et de Cellules, Généthon, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Ulster, Hôpital privé des Peupliers (Paris), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
lymphoblasts, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, ALS, genetics, mutations, alternative autophagy, RAB9, mitochondrial homeostasis, post-mortem spinal cord, transgenic mice, NSC-34 cell line, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Catalysis, Inorganic Chemistry, Mice, Profilins, Autophagy, Animals, Homeostasis, Humans, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, Organic Chemistry, Amyotrophic Lateral Sclerosis, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, General Medicine, Computer Science Applications, Mitochondria, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, rab GTP-Binding Proteins, Mutation
Abstract

International audience; Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic role of PFN1 mutations in ALS is still not fully understood. We hypothesized that PFN1 could play a role in regulating autophagy pathways and that PFN1 mutations could disrupt this function. We used patient cells (lymphoblasts) or tissue (post-mortem) carrying PFN1 mutations (M114T and E117G), and designed experimental models expressing wild-type or mutant PFN1 (cell lines and novel PFN1 mice established by lentiviral transgenesis) to study the effects of PFN1 mutations on autophagic pathway markers. We observed no accumulation of PFN1 in the spinal cord of one E117G mutation carrier. Moreover, in patient lymphoblasts and transfected cell lines, the M114T mutant PFN1 protein was unstable and deregulated the RAB9-mediated alternative autophagy pathway involved in the clearance of damaged mitochondria. In vivo, motor neurons expressing M114T mutant PFN1 showed mitochondrial abnormalities. Our results demonstrate that the M114T PFN1 mutation is more deleterious than the E117G variant in patient cells and experimental models and suggest a role for the RAB9-dependent autophagic pathway in ALS.

Published
2022
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4. Virological efficacy of switch to DTG plus 3TC in a retrospective observational cohort of suppressed HIV-1 patients with or without past M184V: the LAMRES study

Author

Maria Mercedes Santoro, Daniele Armenia, Elisa Teyssou, José Ramón Santos, Charlotte Charpentier, Sidonie Lambert-Niclot, Andrea Antinori, Christine Katlama, Diane Descamps, Carlo Federico Perno, Vincent Calvez, Roger Paredes, Francesca Ceccherini-Silberstein, and Anne Geneviève Marcelin

Subjects
Microbiology (medical), Anti-HIV Agents, Immunology, HIV Infections, Virological response, Microbiology, M184V, Treatment optimization strategies, Settore MED/07, Dolutegravir, Lamivudine, HIV drug resistance, HIV-1, Immunology and Allergy, Humans, Retrospective Studies
Abstract

The aim of this study was to assess the efficacy of dolutegravir plus lamivudine (DTG+3TC) in a large set of virologically suppressed HIV-1 infected individuals with or without past M184V mutation.This observational study included individuals who switched to DTG+3TC with ≥1 genotype before switch. Survival analysis was used to evaluate the role of past M184V on virological rebound (VR) or blips after DTG+3TC switch.A total of 712 individuals followed in several clinical centres in France, Italy and Spain were analysed. Past M184V was present in 60 (8.4%) individuals. By 3 years after switch, the overall probability of VR and blips was 6.7% and 6.9%, respectively, without any statistical significance according to the presence/absence of past M184V. A significantly higher probability of VR was found in individuals harbouring M184V before DTG+3TC with a duration of virological suppression (Ts) ≤.3.5 years compared to others (M184V+Ts ≤.3.5 years: 22.7%; M184M+Ts ≤.3.5 years: 9.0%; M184V+Ts3.5 years: 7.8%; M184M+Ts3.5 years: 4.9%; P = 0.007). This finding was not confirmed in multivariable models adjusting for behavioural and demographic variables. Genotypic resistance test after VR under DTG+3TC was available for 8/39 individuals; one poorly adherent individual developed M184V. No resistance to INIs was found.In this retrospective observational study, the probability of VR and blips in patients switching to DTG+3TC was very low after 3 years of treatment regardless M184V. The effect of a short duration of previous virological suppression in individuals with M184V remains troubling and needs ad hoc clinical trials to be confirmed.

Published
2022

5. Cumulative incidence of SARS-CoV-2 infection and associated risk factors among frontline health care workers in Paris: the SEROCOV cohort study

Author

Pierre Hausfater, David Boutolleau, Karine Lacombe, Alexandra Beurton, Margaux Dumont, Jean-Michel Constantin, Jade Ghosn, Alain Combes, Nicolas Cury, Romain Guedj, Michel Djibré, Rudy Bompard, Sandie Mazerand, Valérie Pourcher, Linda Gimeno, Clémence Marois, Elisa Teyssou, Anne-Geneviève Marcelin, David Hajage, and Florence Tubach

Subjects
Adult, Male, Paris, Multidisciplinary, SARS-CoV-2, Health Personnel, Incidence, COVID-19, Cohort Studies, Risk Factors, Humans, Female, Prospective Studies, Melanthiaceae, Pandemics
Abstract

With the COVID-19 pandemic, documenting whether health care workers (HCWs) are at increased risk of SARS-CoV-2 contamination and identifying risk factors is of major concern. In this multicenter prospective cohort study, HCWs from frontline departments were included in March and April 2020 and followed for 3 months. SARS-CoV-2 serology was performed at month 0 (M0), M1, and M3 and RT-PCR in case of symptoms. The primary outcome was laboratory-confirmed SARS-CoV-2 infection at M3. Risk factors of laboratory-confirmed SARS-CoV-2 infection at M3 were identified by multivariate logistic regression. Among 1062 HCWs (median [interquartile range] age, 33 [28–42] years; 758 [71.4%] women; 321 [30.2%] physicians), the cumulative incidence of SARS-CoV-2 infection at M3 was 14.6% (95% confidence interval [CI] [12.5; 16.9]). Risk factors were the working department specialty, with increased risk for intensive care units (odds ratio 1.80, 95% CI [0.38; 8.58]), emergency departments (3.91 [0.83; 18.43]) and infectious diseases departments (4.22 [0.92; 18.28]); current smoking was associated with reduced risk (0.36 [0.21; 0.63]). Age, sex, professional category, number of years of experience in the job or department, and public transportation use were not significantly associated with laboratory-confirmed SARS-CoV-2 infection at M3. The rate of SARS-CoV-2 infection in frontline HCWs was 14.6% at the end of the first COVID-19 wave in Paris and occurred mainly early. The study argues for an origin of professional in addition to private life contamination and therefore including HCWs in the first-line vaccination target population. It also highlights that smokers were at lower risk.Trial registration The study has been registered on ClinicalTrials.gov: NCT04304690 first registered on 11/03/2020.

Published
2021

6. Kinetics of Archived M184V Mutation in Treatment-Experienced Virally Suppressed HIV-Infected Patients

Author

Christine Katlama, Roland Tubiana, Romain Palich, Marc Wirden, Lise Cuzin, Valérie Pourcher, Marc-Antoine Valantin, Elisa Teyssou, Sophie Seang, Vincent Calvez, Cathia Soulié, Basma Abdi, Luminita Schneider, Sophie Sayon, Anne-Geneviève Marcelin, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de virologie [CHU Pitié-Salpêtrière], Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre Hospitalier Universitaire de Martinique [Fort-de-France, Martinique]

Subjects
antiretroviral treatment, medicine.medical_specialty, Anti-HIV Agents, viruses, Human immunodeficiency virus (HIV), Proviral dna, HIV Infections, medicine.disease_cause, Gastroenterology, HIV reservoir, Treatment experienced, Persistence (computer science), 03 medical and health sciences, Internal medicine, Drug Resistance, Viral, Immunology and Allergy, Hiv infected patients, Medicine, Emtricitabine, Humans, 030304 developmental biology, 0303 health sciences, Mutation, 030306 microbiology, business.industry, Detection threshold, virus diseases, HIV, DNA, Resistance mutation, 3. Good health, M184V, ultradeep sequencing, Kinetics, Infectious Diseases, Lamivudine, HIV-1, RNA, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Background We aimed to assess the kinetics of drug-resistant viral variants (DRVs) harboring the M184V mutation in proviral DNA of long-term virally suppressed patients, and factors associated with DRV persistence. Methods Human immunodeficiency virus (HIV) DNA from blood cells stored in 2016 and 2019 was sequenced using Sanger and ultradeep sequencing (SS and UDS; detection threshold 1%) in antiretroviral therapy (ART)-treated patients with HIV RNA Results Among 79 patients, by combining SS and UDS, M184V was found to be absent in 26/79 (33%) patients and persistent in 53/79 (67%). M184V-positive patients had a longer history of ART, lower CD4 nadir, and higher pretherapeutic HIV RNA. Among 37 patients with viral sequences assessed by UDS, the proportion of M184V-positive DRVs significantly decreased between 2016 and 2019 (40% vs 14%, P = .005). The persistence of M184V was associated with duration and level of HIV RNA replication under lamivudine/emtricitabine (3TC/FTC; P = .0009 and P = .009, respectively). Conclusions While it decreased over time in HIV DNA, M184V mutation was more frequently persistent in HIV DNA of more treatment-experienced patients with longer past replication under 3TC/FTC.

Published
2021

7. New advances in Amyotrophic Lateral Sclerosis genetics: towards gene therapy opportunities for familial and young cases

Author

Stéphanie Millecamps, Elisa Teyssou, Maria-Del-Mar Amador, François Muratet, Séverine Boillée, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centres de référence pour la sclérose latérale amyotrophique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Gestionnaire, HAL Sorbonne Université 5, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
Motor neuron diseases, Genetic counseling, [SDV]Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, Disease, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, pathogenic mutation, TARDBP, frontotemporal dementia, 03 medical and health sciences, 0302 clinical medicine, inclusion body myopathy, C9orf72, Medicine, Humans, 030212 general & internal medicine, Genetic Testing, Amyotrophic lateral sclerosis, Genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Amyotrophic Lateral Sclerosis, Oligogenic Inheritance, Genetic Therapy, medicine.disease, Penetrance, 3. Good health, [SDV] Life Sciences [q-bio], Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Neurology (clinical), Paget's disease of bone, business, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract

International audience; Due to novel gene therapy opportunities, genetic screening is no longer restricted to familial cases of ALS (FALS) cases but also aplies to the sporadic populations (SALS). Screening of four main genes (C9orf72, SOD1, TARDBP and FUS) identified the causes in 15% of Amyotrophic Lateral Sclerosis (ALS) patients (two third of the familial cases and 8% of the sporadic ones) but their respective contribution to ALS phenotype varies according the age of disease onset. The genetic overlap between ALS and other diseases is expanding and includes frontotemporal dementia, Paget's Disease of Bone, myopathy for adult cases, HSP and CMT for young cases highlighing the importance of retrieving the exhaustive familial history for each indivdual with ALS. Incomplete disease penetrance, diversity of the possible phenotypes, as well as the lack of confidence concerning the pathogenicity of most identified variants and/or possible oligogenic inheritance are burdens of ALS genetic counseling to be delivered to patients and at risk individuals. The multitude of rare ALS genetic causes identifed seems to converge to similar cellular pathways leading to inapropriate response to stress emphacising new potential therapeutic options for the disease.

Published
2021

8. The 501Y.V2 SARS-CoV-2 variant has an intermediate viral load between the 501Y.V1 and the historical variants in nasopharyngeal samples from newly diagnosed COVID-19 patients

Author

Elisa Teyssou, Benoit Visseaux, Laurence Morand-Joubert, Vincent Calvez, Cathia Soulié, Aurélie Schnuriger, Charlotte Charpentier, Sidonie Lambert-Niclot, Stéphane Marot, Valentin Leducq, Marc Wirdern, Nadira Houhou-Fidouh, Basma Abdi, Sonia Burrel, Diane Descamps, Sophie Sayon, Anne-Geneviève Marcelin, Aude Jary, Karen Zafilaza, Valentine Marie Ferré, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Service de Virologie [CHU Bichat], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Virologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Laboratoire de virologie [APHP Claude Bernard Bichat], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre National de Référence Herpèsvirus [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], and TEYSSOU, Elisa

Subjects
Microbiology (medical), Cycle threshold, 2019-20 coronavirus outbreak, variants, Coronavirus disease 2019 (COVID-19), business.industry, SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), [SDV]Life Sciences [q-bio], COVID-19, Newly diagnosed, Biology, Viral Load, Virology, Antibodies, Neutralizing, [SDV] Life Sciences [q-bio], Infectious Diseases, Medicine, Humans, business, Viral load, Letter to the Editor, 501Y.V1, ComputingMilieux_MISCELLANEOUS, 501Y.V2
Abstract

The 501Y.V2 and the 501Y.V1 SARS-CoV-2 variants emerged and spread rapidly into the world. We analysed the viral load of 643 nasopharyngeal samples of COVID-19 patients at diagnosis and found that the 501Y.V1 and the 501Y.V2 variants presented a viral load three to ten times and two times higher than the historical variants, respectively.HighlightsViral load in COVID-19 patient nasopharyngeal samples was different between variants.The 501Y.V2 variant had a viral load 2 times higher than the historical variantsThe 501Y.V2 variant had a viral load slightly lower than the 501Y.V1The 501Y.V1 variant had a viral load 3-10 times higher than the historical variants

Published
2021

9. Neutralization Heterogeneity of UK and South African Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Variants in BNT162b2-Vaccinated or Convalescent Coronavirus Disease 2019 (COVID-19) Healthcare Workers

Author

Marc Wirden, Valentin Leducq, Isabelle Malet, Sonia Burrel, Christophe Rodriguez, Anne-Geneviève Marcelin, Vincent Calvez, Cathia Soulié, Slim Fourati, Jean-Michel Pawlotsky, Elisa Teyssou, Stéphane Marot, Aude Jary, Basma Abdi, and David Boutolleau

Subjects
0301 basic medicine, Microbiology (medical), 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Health Personnel, education, Antibodies, Viral, Neutralizing antibodies, Neutralization, 03 medical and health sciences, 0302 clinical medicine, Potency, Medicine, Humans, 030212 general & internal medicine, BNT162 Vaccine, SARS-CoV-2 variants, biology, business.industry, SARS-CoV-2, Brief Report, virus diseases, COVID-19, Virology, Antibodies, Neutralizing, United Kingdom, 3. Good health, Titer, 030104 developmental biology, Infectious Diseases, AcademicSubjects/MED00290, biology.protein, Antibody, business, Vaccine
Abstract

There are concerns about neutralizing antibodies’ (NAbs’) potency against severe acute respiratory syndrome coronavirus 2 variants. Despite decreased NAb titers elicited by BNT162b2 vaccine against VOC202012/01 and 501Y.V2 strains, 28/29 healthcare workers (HCWs) had an NAb titer ≥1:10. In contrast, 6 months after coronavirus disease 2019 mild forms, only 9/15 (60%) of HCWs displayed detectable NAbs against 501Y.V2 strain.

Published
2021

10. Genetic screening of ANXA11 revealed novel mutations linked to Amyotrophic Lateral Sclerosis

Author

Selma Machat, Elisa Teyssou, Vincent Meininger, Yannick Marie, Géraldine Lautrette, Beata Gyorgy, Stéphanie Millecamps, Philippe Couratier, Séverine Boillée, Mélanie Ferrien, Danielle Seilhean, Cécile Cazeneuve, François Muratet, Thierry Larmonier, Justine Guegan, François Salachas, Pascal Cintas, Safaa Saker, Nadine Le Forestier, Maria-Del-Mar Amador, William Camu, Eric LeGuern, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centres de référence pour la sclérose latérale amyotrophique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre référent Sclérose Latérale Amyotrophique et autres maladies du motoneurone [CHU Limoges] (SLA CHU Limoges), CHU Limoges, Généthon, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Sclérose Latérale amyotrophique [CHU Toulouse], Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital privé des Peupliers (Paris), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Neuropathologie [CHU Pitié Salpêtrière], Gestionnaire, HAL Sorbonne Université 5, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Sclérose Latérale Amyotrophique et maladies, Unité de neurophysiologie clinique [CHU Toulouse], and CHU Toulouse [Toulouse]

Subjects
0301 basic medicine, Male, Aging, Pathology, medicine.medical_specialty, Annexins, Datasets as Topic, ANXA11, frontotemporal dementia, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, medicine, Humans, Exome, Motor neuron disease, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Cognitive decline, Amyotrophic lateral sclerosis, Genetic Association Studies, neuropathology, business.industry, General Neuroscience, Neurodegeneration, Amyotrophic Lateral Sclerosis, FTD, Frontotemporal lobar degeneration, Motor neuron, Spinal cord, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Mutation, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), France, Geriatrics and Gerontology, Frontotemporal Lobar Degeneration, ALS, Annexin A11, business, 030217 neurology & neurosurgery, Developmental Biology, Frontotemporal dementia
Abstract

ANXA11 mutations have previously been discovered in amyotrophic lateral sclerosis (ALS) motor neuron disease. To confirm the contribution of ANXA11 mutations to ALS, a large exome data set obtained from 330 French patients, including 150 familial ALS index cases and 180 sporadic ALS cases, was analyzed, leading to the identification of 3 rare ANXA11 variants in 5 patients. The novel p.L254V variant was associated with early onset sporadic ALS. The novel p.D40Y mutation and the p.G38R variant concerned patients with predominant pyramidal tract involvement and cognitive decline. Neuropathologic findings in a p.G38R carrier associated the presence of ALS typical inclusions within the spinal cord, massive degeneration of the lateral tracts, and type A frontotemporal lobar degeneration. This mutant form of annexin A11 accumulated in various brain regions and in spinal cord motor neurons, although its stability was decreased in patients' lymphoblasts. Because most ANXA11 inclusions were not colocalized with transactive response DNA-binding protein 43 or p62 deposits, ANXA11 aggregation does not seem mandatory to trigger neurodegeneration with additional participants/partner proteins that could intervene.

Published
2021

11. The Delta SARS-CoV-2 variant has a higher viral load than the Beta and the historical variants in nasopharyngeal samples from newly diagnosed COVID-19 patients

Author

Emna Ghidaoui, Stéphane Marot, Sidonie Lambert-Niclot, Basma Abdi, David Boutolleau, Héloise Delagrèverie, Charlotte Charpentier, Elisa Teyssou, Ségolène Brichler, Aude Jary, Laurence Morand-Joubert, Diane Descamps, Vincent Calvez, Anne-Geneviève Marcelin, Cathia Soulié, Sepideh Akhavan, Aurélie Schnuriger, Valentine Marie Ferré, Eve Todesco, Nadhira Houhou-Fidouh, Benoit Visseaux, TEYSSOU, Elisa, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Strasbourg, Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Service de Virologie [CHU Bichat], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Virologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Hôpital Avicenne [AP-HP], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Laboratoire de virologie [APHP Claude Bernard Bichat], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de Référence Herpèsvirus [CHU Pitié Salpêtrière], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP]

Subjects
Microbiology (medical), Delta, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), [SDV]Life Sciences [q-bio], Alpha (ethology), Newly diagnosed, Biology, Nasopharynx, Humans, Beta (finance), Letter to the Editor, ComputingMilieux_MISCELLANEOUS, Alpha, SARS-CoV-2, Variants, Beta, COVID-19, Viral Load, Virology, United Kingdom, [SDV] Life Sciences [q-bio], Infectious Diseases, Spike Glycoprotein, Coronavirus, Viral load
Abstract

International audience; The Delta SARS-CoV-2 variant has a higher viral load than the Beta and the historical variants in nasopharyngeal samples from newly diagnosed COVID-19 patients

Published
2021

12. Presence of HIV-1 G-to-A mutations linked to APOBEC editing is more prevalent in non-B HIV-1 subtypes and is associated with lower HIV-1 reservoir

Author

Romain Palich, Marc Wirden, Sidonie Lambert-Niclot, Anne Simon, Marc-Antoine Valantin, Laurence Morand-Joubert, Sophie Sayon, Anne-Geneviève Marcelin, Elisa Teyssou, Basma Abdi, Christine Katlama, Vincent Calvez, Cathia Soulié, Roland Tubiana, Aude Jary, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire de Virologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Maladies Infectieuses et Tropicales [CHU Pitié-Salpêtrière], Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], HAL-SU, Gestionnaire, Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de virologie [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
0301 basic medicine, Microbiology (medical), APOBEC, Male, 030106 microbiology, terminator, HIV Infections, Biology, medicine.disease_cause, viral load result, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, HIV DNA, Proviruses, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Genotype, medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, APOBEC Deaminases, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Pharmacology, Mutation, DNA synthesis, HIV, DNA, Viral Load, Virology, Stop codon, 3. Good health, genotype HIV-1, Infectious Diseases, Terminator (genetics), chemistry, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, HIV-1, codon, Viral load
Abstract

Objectives APOBEC3 editing activity contributes to sequences variation and viral diversification. We aimed to characterize virological and clinical factors associated with G-to-A mutations and stop codons in the HIV-1 reservoir, markers of APOBEC3 footprints, in order to better understand HIV-1 diversity among virologically suppressed HIV-1-infected patients. Methods Immuno-virological and clinical factors were compared between 92 patients harbouring G-to-A mutations and stop codons (APOBEC+) in the reverse transcriptase gene and 92 patients without G-to-A mutations (APOBEC–) and stop codons in their DNA genotypes. Results Patients were predominantly men (74.5%) and were mostly infected by B-subtype (69.0%), with 44.1% and 55.9% in APOBEC+ and APOBEC– groups, respectively. At time of HIV DNA genotypes, the total cell-associated HIV-1 DNA load was 2.34 log10 copies/106 cells (IQR 1.85–2.67) and 33.2% of them had a detectable ultrasensitive plasma viral load. Hypermutated sequences were identified in 28.2% of the APOBEC+ group. The median total cell-associated HIV-1 DNA level was significantly lower in APOBEC+ than APOBEC– group: 2.13 log10 copies/106 cells (IQR 1.60–2.60) versus 2.52 log10 copies/106 cells (IQR 2.19–2.71) (P Conclusions These results show an independent association between the presence of G-to-A mutations and stop codons with HIV-1 subtype non-B and low proviral DNA that could be explained by the APOBEC3 footprints and restriction of DNA synthesis and integration. However, further investigations are needed to study the contribution of Vif amino acid variability among HIV-1 subtypes.

Published
2021

13. Co-infection of SARS-CoV-2 with other respiratory viruses and performance of lower respiratory tract samples for the diagnosis of COVID-19

Author

Charles Edouard Luyt, Anne-Geneviève Marcelin, Elisa Teyssou, Martin Dres, David Boutolleau, Valérie Pourcher, Vincent Calvez, Sonia Burrel, Pierre Hausfater, Cathia Soulié, Gestionnaire, Hal Sorbonne Université, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Accueil des Urgences [CHU Pitié-Salpêtrière] (SAU), Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Service de Pneumologie et Réanimation Médicale [CHU Pitié-Salpêtrière] (Département ' R3S '), Service de Maladies Infectieuses et Tropicales [CHU Pitié-Salpêtrière], Institut de cardiologie [CHU Pitié-Salpêtrière], BIOSFAST [CHU Pitié-Salpêtrière] (GRC 14), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), dres, martin, Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de virologie [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurophysiologie Respiratoire Expérimentale et Clinique, Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP]

Subjects
Male, 0301 basic medicine, viruses, Other respiratory viruses, [SDV]Life Sciences [q-bio], Respiratory System, Disease Outbreaks, 0302 clinical medicine, Medicine, 030212 general & internal medicine, Respiratory system, skin and connective tissue diseases, Child, Aged, 80 and over, Coinfection, Age Factors, General Medicine, Middle Aged, University hospital, 3. Good health, Co-infection, Hospitalization, [SDV] Life Sciences [q-bio], Infectious Diseases, medicine.anatomical_structure, Virus Diseases, Child, Preschool, Female, Adult, Microbiology (medical), Paris, medicine.medical_specialty, Adolescent, Coronavirus disease 2019 (COVID-19), Short Communication, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), 030106 microbiology, lcsh:Infectious and parasitic diseases, Young Adult, 03 medical and health sciences, Internal medicine, Humans, lcsh:RC109-216, In patient, Aged, business.industry, SARS-CoV-2, Lower respiratory tract, fungi, COVID-19, Infant, Outbreak, respiratory tract diseases, body regions, business, Co infection, Respiratory tract
Abstract

Highlights • Extent of co-infections of SARS-CoV-2 with other respiratory viruses remains unknown. • Lower respiratory tract samples improve the diagnosis of non-SARS-CoV-2 respiratory infections. • 7% of SARS-CoV-2-positive patients were co-infected with other respiratory viruses. • The detection of other respiratory viruses cannot rule out SARS-CoV-2 co-infection. • Lower respiratory tract samples increase the accuracy of diagnosis of COVID-19., Objectives We performed a study during the early outbreak period of coronavirus disease 2019 (COVID-19) and the seasonal epidemics of other respiratory viral infections in order to describe the extent of co-infections of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) with other respiratory viruses. A second objective consisted in the comparison of the diagnostic performances of URT and LRT samples for SARS-CoV-2 infection and to compare diagnostic performances of upper and lower respiratory tract (URT and LRT) samples for SARS-CoV-2 infection. Methods From January 25th through March 29th, 2020, all URT and LRT samples collected from patients with suspected COVID-19 received in the virology laboratory of Pitié-Salpêtrière University Hospital (Paris, France) were tested simultaneously for SARS-CoV-2 and other respiratory viruses. Results A total of 1423 consecutive patients were tested: 677 (47.6%) males, 746 (52.4%) females, median age of 50 [1-103] years. Twenty-one (1.5%) patients were positive for both SARS-CoV-2 and other respiratory viruses. The detection rate of SARS-CoV-2 was significantly higher in LRT than in URT (53.6% versus 13.4%; P

Published
2021

14. Impact of a frequent nearsplice

Author

François, Muratet, Elisa, Teyssou, Aude, Chiot, Séverine, Boillée, Christian S, Lobsiger, Delphine, Bohl, Beata, Gyorgy, Justine, Guegan, Yannick, Marie, Maria Del Mar, Amador, Francois, Salachas, Vincent, Meininger, Emilien, Bernard, Jean-Christophe, Antoine, Jean-Philippe, Camdessanché, William, Camu, Cécile, Cazeneuve, Anne-Laure, Fauret-Amsellem, Eric, Leguern, Kevin, Mouzat, Claire, Guissart, Serge, Lumbroso, Philippe, Corcia, Patrick, Vourc'h, Aude-Marie, Grapperon, Shahram, Attarian, Annie, Verschueren, Danielle, Seilhean, and Stéphanie, Millecamps

Subjects
Adult, Aged, 80 and over, Male, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Genetic Therapy, Middle Aged, Pedigree, Phenotype, Superoxide Dismutase-1, Mutation, Humans, Female, Genetic Testing, Aged
Abstract

Mutations in superoxide dismutase 1 gene (We analysed SOD1 mutation distribution after SOD1 sequencing in a large cohort of 470 French familial ALS (fALS) index cases.We identified a total of 27 SOD1 variants in 38 families including two SOD1 variants located in nearsplice or intronic regions of the gene. The pathogenicity of the c.358-10TG nearspliceOur results highlighted nearsplice/intronic mutations in

Published
2020

15. Evolution of viral quasispecies during SARS-CoV-2 infection

Author

Elise Klement-Frutos, Aude Jary, Isabelle Malet, Anne-Geneviève Marcelin, Elisa Teyssou, Basma Abdi, David Boutolleau, Marc Wirden, Eric Caumes, Valentin Leducq, Stéphane Marot, Vincent Calvez, Valérie Pourcher, Cathia Soulié, Sonia Burrel, Gestionnaire, Hal Sorbonne Université, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Virologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Maladies Infectieuses et Tropicales [CHU Pitié-Salpêtrière], Service de virologie [CHU Pitié-Salpêtrière], and Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière]

Subjects
0301 basic medicine, Silent mutation, Microbiology (medical), Minority variants, viruses, [SDV]Life Sciences [q-bio], 030106 microbiology, Pneumonia, Viral, Viral quasispecies, Genome, Viral, Biology, medicine.disease_cause, Genome, Article, 03 medical and health sciences, Betacoronavirus, Viral Proteins, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Gene, Pandemics, Phylogeny, Coronavirus, Genetics, Mutation, Phylogenetic tree, SARS-CoV-2, COVID-19, General Medicine, 3. Good health, [SDV] Life Sciences [q-bio], Quasispecies, Infectious Diseases, NGS, Infection follow-up, Coronavirus Infections, Reference genome, Follow-Up Studies
Abstract

International audience; Objectives: Studies are needed to better understand the genomic evolution of the recently emerged severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This study aimed to describe genomic diversity of SARS-CoV-2 by next-generation sequencing (NGS) in a patient with longitudinal follow-up for SARS-CoV-2 infection.Methods: Sequential samples collected between January 29th and February 4th, 2020, from a patient infected by SARS-CoV-2 were used to perform amplification of two genome fragments-including genes encoding spike, envelope, membrane and nucleocapsid proteins-and NGS was carried out with Illumina® technology. Phylogenetic analysis was performed with PhyML and viral variant identification with VarScan.Results: Majority consensus sequences were identical in most of the samples (5/7) and differed in one synonymous mutation from the Wuhan reference sequence. We identified 233 variants; each sample harboured in median 38 different minority variants, and only four were shared by different samples. The frequency of mutation was similar between genes and correlated with the length of the gene (r = 0.93, p = 0.0002). Most of mutations were substitution variations (n = 217, 93.1%) and about 50% had moderate or high impact on gene expression. Viral variants also differed between lower and upper respiratory tract samples collected on the same day, suggesting independent sites of replication of SARS-CoV-2.Conclusions: We report for the first time minority viral populations representing up to 1% during the course of SARS-CoV-2 infection. Quasispecies were different from one day to the next, as well as between anatomical sites, suggesting that in vivo this new coronavirus appears as a complex and dynamic distributions of variants.

Published
2020

16. Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Author

Guillaume Bataillon, Vincent Meininger, Danielle Seilhean, Takahiro Takeda, Séverine Boillée, Elisa Teyssou, Brahima Doukouré, Véronique Sazdovitch, Vincent Lebon, Cécile Cazeneuve, François Salachas, Stéphanie Millecamps, Eric LeGuern, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neuropathologie Raymond Escourolle, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and MILLECAMPS, Stéphanie

Subjects
Adult, Male, [SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Heterozygote, Neuropathology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, Sequestosome 1, Sequestosome-1 Protein, Genetic predisposition, medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Missense mutation, Humans, Amyotrophic lateral sclerosis, education, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Aged, Genetics, Aged, 80 and over, 0303 health sciences, education.field_of_study, Ubiquitin, Amyotrophic Lateral Sclerosis, Intron, Brain, Heterozygote advantage, Middle Aged, medicine.disease, 3. Good health, DNA-Binding Proteins, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

Mutations in SQSTM1 encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis (ALS). p62 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. We sequenced SQSTM1 in 90 French patients with familial ALS (FALS) and 74 autopsied ALS cases with sporadic ALS (SALS). We identified, at the heterozygote state, one missense c.1175C>T, p.Pro392Leu (exon 8) in one of our FALS and one substitution in intron 7 (the c.1165+1G>A, previously called IVS7+1 G-A, A390X) affecting the exon 7 splicing site in one SALS. These mutations that are located in the ubiquitin-associated domain (UBA domain) of the p62 protein have already been described in Paget’s disease and ALS patients carrying these mutations had both concomitant Paget’s disease. However, we also identified two novel missense mutations in two SALS: the c.259A>G, p.Met87Val in exon 2 and the c.304A>G, p.Lys102Glu in exon 3. These mutations that were not detected in 360 control subjects are possibly pathogenic. Neuropathology analysis of three patients carrying SQSTM1 variants revealed the presence of large round p62 inclusions in motor neurons, and immunoblot analysis showed an increased p62 and TDP-43 protein levels in the spinal cord. Our results confirm that SQSTM1 gene mutations could be the cause or genetic susceptibility factor of ALS in some patients.

Published
2013

17. Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients

Author

Elisa Teyssou, Laura Chartier, Philippe Couratier, Stéphanie Millecamps, Mélanie Albert, Jean-Philippe Camdessanché, Jean-Christophe Antoine, Alexandra Bouscary, François Salachas, Francesco Rotolo, Danielle Seilhean, HAL-UPMC, Gestionnaire, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie, CHU Saint-Etienne, Service de Neurologie [CHU Limoges], CHU Limoges, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Male, 0301 basic medicine, Aging, Disease, Frontotemporal lobar degeneration, Genetic analysis, Cohort Studies, Mitochondrial Proteins, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Humans, Medicine, Motor neuron disease, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Amyotrophic lateral sclerosis, Gene, Genetic Association Studies, Genetics, Sanger sequencing, business.industry, General Neuroscience, FTD, Exons, medicine.disease, 3. Good health, 030104 developmental biology, Mutation, symbols, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, Neurology (clinical), Geriatrics and Gerontology, FTLD, business, Sequence Analysis, familial ALS, Neuroscience, Frontotemporal dementia, 030217 neurology & neurosurgery, Developmental Biology
Abstract

International audience; Mutations in CHCHD10 have been reported as the cause of a large panel of neurological disorders. In order to confirm the contribution of this gene to amyotrophic lateral sclerosis (ALS) disease we analyzed the 4 coding exons of CHCHD10 by Sanger sequencing in a cohort of 118 French familial ALS already excluded for all known ALS related genes. We did not find any pathogenic mutation suggesting that CHCHD10 is not a major genetic cause of familial ALS, in France.

Published
2016

18. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

Author

François Salachas, Cécile Cazeneuve, Véronique Danel-Brunaud, Nadine Le Forestier, Isabelle Le Ber, Vincent Meininger, Gaëlle Bruneteau, Marine Giraudeau, Philippe Corcia, Eric LeGuern, Séverine Boillée, Elisa Teyssou, Lucette Lacomblez, Danielle Seilhean, Alexis Brice, Pierre-François Pradat, William Camu, Nadia Vandenberghe, Carine Moigneu, Stéphanie Millecamps, MILLECAMPS, Stéphanie, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique-Hôpitaux de Paris - Espace éthique (AP-HP Espace éthique), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neuropathologie Raymond Escourolle, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)

Subjects
Adult, Male, Oncology, medicine.medical_specialty, SOD1, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, TARDBP, Young Adult, 03 medical and health sciences, Superoxide Dismutase-1, 0302 clinical medicine, C9orf72, Internal medicine, Genetics, medicine, Humans, Amyotrophic lateral sclerosis, Genetic Association Studies, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, DNA Repeat Expansion, C9orf72 Protein, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Age Factors, Proteins, Middle Aged, medicine.disease, DNA-Binding Proteins, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, RNA-Binding Protein FUS, Female, Age of onset, Trinucleotide repeat expansion, Motor neurone disease, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract

Background Expanded GGGGCC hexanucleotide repeats in the promoter of the C9ORF72 gene have recently been identified in frontotemporal dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and ALS-FTD and appear as the most common genetic cause of familial (FALS) and sporadic (SALS) forms of ALS. Methods We searched for the C9ORF72 repeat expansion in 950 French ALS patients (225 FALS and 725 SALS) and 580 control subjects and performed genotype-phenotype correlations. Results The repeat expansion was present in 46% of FALS, 8% of SALS and 0% of controls. Phenotype comparisons were made between FALS patients with expanded C9ORF72 repeats and patients carrying another ALS-related gene ( SOD1, TARDBP, FUS ) or a yet unidentified genetic defect. SALS patients with and without C9ORF72 repeat expansions were also compared. The C9ORF72 group presented more frequent bulbar onset both in FALS (p

Published
2012

19. Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients

Author

Mélanie Albert, Agnès Camuzat, Mailys Daniau, Daniela Galimberti, Stéphanie Millecamps, Eric LeGuern, Anne de Septenville, Yannick Marie, Alexis Brice, Isabelle Le Ber, and Elisa Teyssou

Subjects
Aging, Pathology, medicine.medical_specialty, Disease, Genetic analysis, Cohort Studies, Pathogenesis, Nuclear Matrix-Associated Proteins, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Amyotrophic lateral sclerosis, Gene, Exome, Genetic Association Studies, business.industry, General Neuroscience, Amyotrophic Lateral Sclerosis, RNA-Binding Proteins, nutritional and metabolic diseases, Exons, Frontotemporal lobar degeneration, medicine.disease, nervous system diseases, Mutation, France, Neurology (clinical), Frontotemporal Lobar Degeneration, Geriatrics and Gerontology, business, Developmental Biology, Frontotemporal dementia
Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are adult-onset neurodegenerative diseases with overlapping clinical characteristics. They share common genetic causes and pathologic hallmarks such as TDP-43 neuronal accumulations. Recently, exome analysis identified mutations in matrin 3 (MATR3) gene in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. MATR3 is a nuclear matrix protein with DNA and RNA binding domains that interacts with TDP-43. To confirm the contribution of MATR3 to ALS, we studied a French cohort of 153 familial ALS or ALS/FTLD patients, without finding any variant. We conclude that mutations in MATR3 are rare in French familial ALS and ALS with FTLD patients.

Published
2014

20. Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis

Author

Pierre-François Pradat, Séverine Boillée, Eric LeGuern, François Salachas, Elisa Teyssou, Nadia Vandenberghe, Philippe Couratier, Vincent Meininger, Carine Moigneu, Stéphanie Millecamps, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), INSERM UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Limoges], CHU Limoges, Epidémiologie des Maladies Chroniques en zone tropicale (EpiMaCT), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-OmégaHealth (ΩHealth), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
Aging, Molecular Sequence Data, Familial ALS, Cell Cycle Proteins, Single-nucleotide polymorphism, Biology, Genetic analysis, White People, Mice, Exon, OPTN, Transcription Factor TFIIIA, medicine, Animals, Humans, Missense mutation, Motor neuron disease, Double mutant, Amyotrophic lateral sclerosis, Gene, Exome sequencing, Aged, Aged, 80 and over, Genetics, Base Sequence, General Neuroscience, Amyotrophic Lateral Sclerosis, Genetic Variation, Membrane Transport Proteins, CREST, Dendrites, Exons, medicine.disease, Macaca mulatta, Molecular biology, Rats, Mutation, Mutation (genetic algorithm), Trans-Activators, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, Neurology (clinical), Geriatrics and Gerontology, Chickens, Developmental Biology
Abstract

International audience; Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease including about 15% of genetically determined forms. A de novo mutation in the SS18L1 (also known as CREST or KIAA0693) gene encoding the calcium-responsive transactivator and/or neuronal chromatin remodeling complex subunit has recently been identified by exome sequencing of 47 sporadic ALS trios. This Q388stop mutation deleting the last 9 amino acids was shown to impair activity-dependent dendritic outgrowth. A missense mutation (c.369T>G, p.Ileu123Met) was also found in 1 of 62 ALS families previously screened for other ALS-related genes and not carrying any mutation. To confirm the contribution of SS18L1 to ALS, we sequenced the 11 coding exons and exon-intron boundaries in 87 familial ALS (FALS). We identified 2 variants: the c.660_668del, p.Gln222_Ser224del in a patient devoid of mutation in any ALS related genes and the c.790G>A, p.Ala264Thr in a patient carrying a p.Arg96Leu variant in the OPTN gene. As these variants were not found in Single Nucleotide Polymorphism databases and were absent from 180 controls they could be new SS18L1 mutations causing ALS.

Published
2014

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