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1. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Author

Aung, Tin, Ozaki, Mineo, Lee, Mei, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert, Haripriya, Aravind, Williams, Susan, Astakhov, Yury, Orr, Andrew, Burdon, Kathryn, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica, Cherecheanu, Alina, Kang, Jae, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki, Cha, Soon, Yamashiro, Kenji, Zenteno, Juan, Jonas, Jost, Kumar, Rajesh, Perera, Shamira, Chan, Anita, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak, de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan, Beni, Afsaneh, and Yazdani, Shahin

Subjects
Aged, 80 and over, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian People, Calcium Channels, Cell Adhesion, Exfoliation Syndrome, Extracellular Matrix, Eye, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Male, Molecular Chaperones, Mutation, Missense, Point Mutation, RNA, Messenger, Spheroids, Cellular
Abstract

Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10-14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10-8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017

2. Warburg-like effect is a hallmark of complex I assembly defects

Author

Desquiret-Dumas, Valerie, Leman, Geraldine, Wetterwald, Celine, Chupin, Stephanie, Lebert, Anaïs, Khiati, Salim, Le Mao, Morgane, Geffroy, Guillaume, Kane, Mariame Selma, Chevrollier, Arnaud, Goudenege, David, Gadras, Cedric, Tessier, Lydie, Barth, Magalie, Leruez, Stephanie, Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Lenaers, Guy, and Gueguen, Naig

Published
2019
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6. Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

Author

Gerber, Sylvie, Charif, Majida, Chevrollier, Arnaud, Chaumette, Tanguy, Angebault, Claire, Kane, Mariame Selma, Paris, Aurélien, Alban, Jennifer, Quiles, Mélanie, Delettre, Cécile, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal, Leruez, Stéphanie, Calmon, Raphael, Boddaert, Nathalie, Funalot, Benoit, Rio, Marlène, Bouccara, Didier, Meunier, Isabelle, Sesaki, Hiromi, Kaplan, Josseline, Hamel, Christian P., Rozet, Jean-Michel, and Lenaers, Guy

Published
2017
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9. Evaluation of rAAV2/2-ND4 Gene Therapy Efficacy in Leber Hereditary Optic Neuropathy Using an External Control Group of Untreated Patients (4108)

Author

Newman, Nancy, primary, Yu-Wai-Man, Patrick, additional, Carelli, Valerio, additional, Moster, Mark, additional, Vignal-Clermont, Catherine, additional, Sadun, Alfredo, additional, La Morgia, Chiara, additional, Bandello, Francesco, additional, Campillo, Lorena Castillo, additional, Leruez, Stéphanie, additional, Cestari, Dean, additional, Foroozan, Rod, additional, Karanjia, Rustum, additional, Blouin, Laure, additional, Roux, Michel, additional, Taiel, Magali, additional, and Sahel, Jose-Alain, additional

Published
2021
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10. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Author

Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G., Charif, Majida [0000-0003-3301-4305], Chevrollier, Arnaud [0000-0002-5135-6643], Jurkute, Neringa [0000-0002-3092-7451], Caporali, Leonardo [0000-0002-0666-4380], La Morgia, Chiara [0000-0002-4639-8929], Lenaers, Guy [0000-0003-2736-3349], and Apollo - University of Cambridge Repository

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, [SDV]Life Sciences [q-bio], DOA, 32 Biomedical and Clinical Sciences, Neurodegenerative, SPG7, Article, 3105 Genetics, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, optic atrophy, AFG3L2, Eye Disease and Disorders of Vision, ComputingMilieux_MISCELLANEOUS, 3212 Ophthalmology and Optometry, 2 Aetiology, FOS: Clinical medicine, Neurosciences, eye diseases, Brain Disorders, FOS: Biological sciences, Neurological, sense organs, 31 Biological Sciences
Abstract

Objective To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations.\ud\udMethods Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI.\ud\udResults We identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported.\ud\udConclusions Our results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology.

Published
2020
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11. Sensorineural hearing loss in OPA1-linked disorders

Author

Leruez, Stéphanie, Milea, Dan, Defoort-Dhellemmes, Sabine, Colin, Estelle, Crochet, Martine, Procaccio, Vincent, Ferré, Marc, Lamblin, Julie, Drouin, Valérie, Vincent-Delorme, Catherine, Lenaers, Guy, Hamel, Christian, Blanchet, Catherine, Juul, Gitte, Larsen, Michael, Verny, Christophe, Reynier, Pascal, Amati-Bonneau, Patrizia, and Bonneau, Dominique

Published
2013
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13. A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

Author

Chao de la Barca, Juan M., primary, Rondet-Courbis, Barnabé, additional, Ferré, Marc, additional, Muller, Jeanne, additional, Buisset, Adrien, additional, Leruez, Stéphanie, additional, Plubeau, Guillaume, additional, Macé, Thibaut, additional, Moureauzeau, Laurie, additional, Chupin, Stéphanie, additional, Tessier, Lydie, additional, Blanchet, Odile, additional, Lenaers, Guy, additional, Procaccio, Vincent, additional, Mirebeau-Prunier, Delphine, additional, Simard, Gilles, additional, Gohier, Philippe, additional, Miléa, Dan, additional, and Reynier, Pascal, additional

Published
2020
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14. A Data Mining Metabolomics Exploration of Glaucoma

Author

Kouassi Nzoughet, Judith, primary, Guehlouz, Khadidja, additional, Leruez, Stéphanie, additional, Gohier, Philippe, additional, Bocca, Cinzia, additional, Muller, Jeanne, additional, Blanchet, Odile, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Milea, Dan, additional, Procaccio, Vincent, additional, Lenaers, Guy, additional, Chao de la Barca, Juan M., additional, and Reynier, Pascal, additional

Published
2020
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15. Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Author

Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Milea, Dan, Den Dunnen, Johan, Reynier, Pascal, Ferré, Marc, Garret, Philippine, Bris, Céline, Procaccio, Vincent, Amati‐Bonneau, Patrizia, Vabres, Pierre, Houcinat, Nada, Tisserant, Emilie, Feillet, François, Bruel, Ange‐Line, Quéré, Virginie, Philippe, Christophe, Sorlin, Arthur, Tran Mau‐Them, Frédéric, Vitobello, Antonio, Costa, Jean‐Marc, Boughalem, Aïcha, Trost, Detlef, Faivre, Laurence, Thauvin‐Robinet, Christel, Duffourd, Yannis, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Adult, Male, Mitochondrial DNA, Ataxia, Adolescent, Developmental Disabilities, [SDV]Life Sciences [q-bio], Biology, DNA, Mitochondrial, Genome, Haplogroup, Young Adult, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Child, Exome, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, 030305 genetics & heredity, Infant, Newborn, Computational Biology, Genetic Variation, Infant, Middle Aged, Phenotype, Early Diagnosis, Child, Preschool, Female, Nervous System Diseases, medicine.symptom
Abstract

The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort frequencies, haplogroups and protein consequences. Two homoplasmic pathogenic variants (m.9035T>C and m.11778G>A) were identified in 2 out of 928 unrelated individuals (0.2%): the m.9035T>C (MT-ATP6) variant in a female with ataxia and the m.11778G>A (MT-ND4) variant in a male with a complex mosaic disorder and a severe ophthalmological phenotype, uncovering undiagnosed Leber's hereditary optic neuropathy (LHON). Seven secondary findings were also found, predisposing to deafness or LHON, in 7 out of 928 individuals (0.75%). This study demonstrates the usefulness of including a targeted strategy in ES pipeline to detect mtDNA variants, improving results in diagnosis and research, without resampling patients and performing targeted mtDNA strategies.

Published
2019
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16. Nicotinamide Deficiency in Primary Open-Angle Glaucoma

Author

Kouassi Nzoughet, Judith, Chao de La Barca, Juan Manuel, Guehlouz, Khadidja, Coulbault, Laurent, Allouche, Stéphane, Bocca, Cinzia, Muller, Jeanne, Gohier, Philippe, Simard, Gilles, Milea, Dan, Desquiret-Dumas, Valérie, Leman, Géraldine, Wetterwald, Celine, Chupin, Stéphanie, Lebert, Anaïs, Khiati, Salim, Le Mao, Morgane, Geffroy, Guillaume, Kane, Mariame Selma, Chevrollier, Arnaud, Goudenège, David, Gadras, Cédric, Tessier, Lydie, Barth, Magalie, Leruez, Stéphanie, Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Lenaers, Guy, Gueguen, Naïg, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de biochimie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Singapore Eye Research Institute, Singapore National Eye Centre, ARN : régulations naturelle et artificielle, Université Bordeaux Segalen - Bordeaux 2-Institut Européen de Chimie et de Biologie-Institut National de la Santé et de la Recherche Médicale (INSERM), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Biochimie et Génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Réseau Maladies Métaboliques, Hôpitaux Universitaires du Grand Ouest, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Physiopathologie et thérapie des déficits sensoriels et moteurs, Université Montpellier 2 - Sciences et Techniques (UM2)-IFR76-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)

Subjects
0301 basic medicine, Adult, Male, Niacinamide, Intraocular pressure, Spectrometry, Mass, Electrospray Ionization, medicine.medical_specialty, Open angle glaucoma, [SDV]Life Sciences [q-bio], Urology, Glaucoma, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Intraocular Pressure, ComputingMilieux_MISCELLANEOUS, Aged, 030304 developmental biology, Therapeutic strategy, Aged, 80 and over, 0303 health sciences, Nicotinamide, Case-control study, Nicotinamide deficiency, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, chemistry, Case-Control Studies, Plasma concentration, Cohort, 030221 ophthalmology & optometry, Female, 030217 neurology & neurosurgery, Glaucoma, Open-Angle, Cohort study, Chromatography, Liquid
Abstract

PurposeTo investigate the plasma concentration of nicotinamide in primary open-angle glaucoma (POAG).MethodsPlasma of 34 POAG individuals were compared to that of 30 age-and sex-matched controls using a semi-quantitative method based on liquid chromatography coupled to high-resolution mass spectrometry. Subsequently, an independent quantitative method, based on liquid chromatography coupled to mass spectrometry, was used to assess nicotinamide concentration in the plasma from the same initial cohort and from a replicative cohort of 20 POAG individuals and 15 controls.ResultsUsing the semi-quantitative method, the plasma nicotinamide concentration was significantly lower in the initial cohort of POAG individuals compared to and further confirmed in the same cohort, using the targeted quantitative method, with mean concentrations of 0.14 µM (median: 0.12 µM; range: 0.06-0.28 µM) in the POAG group (−30 %;p= 0.022), and 0.19 µM (median: 0.18 µM; range: 0.08-0.47 µM) in the control group. The quantitative dosage also disclosed a significantly lower plasma nicotinamide concentration (−33 %;p= 0.011) in the replicative cohort with mean concentrations of 0.14 µM (median: 0.14 µM; range: 0.09-0.25 µM) in the POAG group, and 0.19 µM (median: 0.21 µM; range: 0.09-0.26 µM) in the control group.ConclusionsGlaucoma is associated with lower plasmatic nicotinamide levels, compared to controls, suggesting that nicotinamide supplementation might become a future therapeutic strategy. Further studies are needed, in larger cohorts, to confirm these preliminary findings.

Published
2019
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17. Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

Author

Ebran, J, Martin, Ludovic, Navasiolava, Nastassia, Ferré, Marc, Milea, Dan, Leruez, Stéphanie, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Univ Angers, Okina

Subjects
Male, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Time Factors, genetic structures, Fundus Oculi, Visual Acuity, Retinal Pigment Epithelium, Middle Aged, Fibrosis, Pseudoxanthoma elasticum, eye diseases, Choroidal Neovascularization, Retina, Optical Coherence, Humans, Female, sense organs, Fluorescein Angiography, Tomography, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Aged, Follow-Up Studies, Retrospective Studies
Abstract

International audience; BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients.METHODS: In a retrospective observational study, ophthalmic outcomes were compared between two groups of age-matched patients with genetically and pathologically confirmed PXE: one group with FP versus one without FP. All included patients underwent thorough clinical examination. Further investigation (optical coherence tomography (OCT), Cirrhus, Zeiss Germany, and/or fluorescein/indocyanin green angiography) was performed in cases of suspected choroidal neovascularization (CNV).RESULTS: The study included 13 PXE patients with FP (group 1: 8 men and 5 women, aged 45-65years) and 47 age-matched PXE patients without FP (group 2: 19 men and 28 women). Mean patient follow-up was 63months (range 0-132months). Subretinal fibrosis (SRF) was more frequently associated with FP (9/26 eyes, 34.6%), compared to absence of FP (4/94, 4.2%) (p = 0.0001). Independently of SRF, FP can evolve into deep macular atrophy and/or CNV with dramatic consequences for central vision.CONCLUSIONS: Fundus pulverulentus may occur in PXE and is most commonly associated with subretinal fibrosis in the posterior pole and visual loss by macular atrophy even in the absence of CNV.

Published
2018

18. Nicotinamide Deficiency in Primary Open-Angle Glaucoma

Author

Nzoughet, Judith Kouassi, primary, de la Barca, Juan Manuel Chao, additional, Guehlouz, Khadidja, additional, Leruez, Stéphanie, additional, Coulbault, Laurent, additional, Allouche, Stéphane, additional, Bocca, Cinzia, additional, Muller, Jeanne, additional, Amati-Bonneau, Patrizia, additional, Gohier, Philippe, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Milea, Dan, additional, Lenaers, Guy, additional, Procaccio, Vincent, additional, and Reynier, Pascal, additional

Published
2019
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19. Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study

Author

Buisset, Adrien, primary, Gohier, Philippe, additional, Leruez, Stéphanie, additional, Muller, Jeanne, additional, Amati-Bonneau, Patrizia, additional, Lenaers, Guy, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Procaccio, Vincent, additional, Annweiler, Cédric, additional, Milea, Dan, additional, Reynier, Pascal, additional, and Chao de la Barca, Juan Manuel, additional

Published
2019
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20. A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

Author

Leruez, Stéphanie, primary, Marill, Alexandre, additional, Bresson, Thomas, additional, de Saint Martin, Grégoire, additional, Buisset, Adrien, additional, Muller, Jeanne, additional, Tessier, Lydie, additional, Gadras, Cédric, additional, Verny, Christophe, additional, Gohier, Philippe, additional, Amati-Bonneau, Patrizia, additional, Lenaers, Guy, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Milea, Dan, additional, Procaccio, Vincent, additional, Reynier, Pascal, additional, and Chao de la Barca, Juan Manuel, additional

Published
2018
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21. Reply: The expanding neurological phenotype of DNM1L-related disorders

Author

Gerber, Sylvie, primary, Charif, Majida, additional, Chevrollier, Arnaud, additional, Chaumette, Tanguy, additional, Angebault, Claire, additional, Kane, Selma, additional, Paris, Aurélien, additional, Alban, Jennifer, additional, Quiles, Mélanie, additional, Delettre, Cécile, additional, Bonneau, Dominique, additional, Procaccio, Vincent, additional, Amati-Bonneau, Patrizia, additional, Reynier, Pascal, additional, Leruez, Stéphanie, additional, Calmon, Raphael, additional, Boddaert, Nathalie, additional, Funalot, Benoit, additional, Rio, Marlène, additional, Bouccara, Didier, additional, Meunier, Isabelle, additional, Sesaki, Hiromi, additional, Kaplan, Josseline, additional, Hamel, Christian P, additional, Rozet, Jean-Michel, additional, and Lenaers, Guy, additional

Published
2018
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22. A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines

Author

Leruez, Stéphanie, primary, Bresson, Thomas, additional, Chao de la Barca, Juan M., additional, Marill, Alexandre, additional, de Saint Martin, Grégoire, additional, Buisset, Adrien, additional, Muller, Jeanne, additional, Tessier, Lydie, additional, Gadras, Cédric, additional, Verny, Christophe, additional, Amati-Bonneau, Patrizia, additional, Lenaers, Guy, additional, Gohier, Philippe, additional, Bonneau, Dominique, additional, Simard, Gilles, additional, Milea, Dan, additional, Procaccio, Vincent, additional, and Reynier, Pascal, additional

Published
2018
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23. A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

Author

Bocca, Cinzia, primary, Kouassi Nzoughet, Judith, additional, Leruez, Stéphanie, additional, Amati-Bonneau, Patrizia, additional, Ferré, Marc, additional, Kane, Mariame-Selma, additional, Veyrat-Durebex, Charlotte, additional, Chao de la Barca, Juan Manuel, additional, Chevrollier, Arnaud, additional, Homedan, Chadi, additional, Verny, Christophe, additional, Miléa, Dan, additional, Procaccio, Vincent, additional, Simard, Gilles, additional, Bonneau, Dominique, additional, Lenaers, Guy, additional, and Reynier, Pascal, additional

Published
2018
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24. Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

Author

Gerber, Sylvie, primary, Charif, Majida, additional, Chevrollier, Arnaud, additional, Chaumette, Tanguy, additional, Angebault, Claire, additional, Kane, Mariame Selma, additional, Paris, Aurélien, additional, Alban, Jennifer, additional, Quiles, Mélanie, additional, Delettre, Cécile, additional, Bonneau, Dominique, additional, Procaccio, Vincent, additional, Amati-Bonneau, Patrizia, additional, Reynier, Pascal, additional, Leruez, Stéphanie, additional, Calmon, Raphael, additional, Boddaert, Nathalie, additional, Funalot, Benoit, additional, Rio, Marlène, additional, Bouccara, Didier, additional, Meunier, Isabelle, additional, Sesaki, Hiromi, additional, Kaplan, Josseline, additional, Hamel, Christian P, additional, Rozet, Jean-Michel, additional, and Lenaers, Guy, additional

Published
2017
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25. Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice

Author

Chao de la Barca, Juan Manuel, primary, Simard, Gilles, additional, Sarzi, Emmanuelle, additional, Chaumette, Tanguy, additional, Rousseau, Guillaume, additional, Chupin, Stéphanie, additional, Gadras, Cédric, additional, Tessier, Lydie, additional, Ferré, Marc, additional, Chevrollier, Arnaud, additional, Desquiret-Dumas, Valérie, additional, Gueguen, Naïg, additional, Leruez, Stéphanie, additional, Verny, Christophe, additional, Miléa, Dan, additional, Bonneau, Dominique, additional, Amati-Bonneau, Patrizia, additional, Procaccio, Vincent, additional, Hamel, Christian, additional, Lenaers, Guy, additional, Reynier, Pascal, additional, and Prunier-Mirebeau, Delphine, additional

Published
2017
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26. The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress

Author

Chao de la Barca, Juan Manuel, primary, Simard, Gilles, additional, Amati-Bonneau, Patrizia, additional, Safiedeen, Zainab, additional, Prunier-Mirebeau, Delphine, additional, Chupin, Stéphanie, additional, Gadras, Cédric, additional, Tessier, Lydie, additional, Gueguen, Naïg, additional, Chevrollier, Arnaud, additional, Desquiret-Dumas, Valérie, additional, Ferré, Marc, additional, Bris, Céline, additional, Kouassi Nzoughet, Judith, additional, Bocca, Cinzia, additional, Leruez, Stéphanie, additional, Verny, Christophe, additional, Miléa, Dan, additional, Bonneau, Dominique, additional, Lenaers, Guy, additional, Martinez, M. Carmen, additional, Procaccio, Vincent, additional, and Reynier, Pascal, additional

Published
2016
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31. The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

Author

de la Barca, Juan Manuel Chao, Simard, Gilles, Amati-Bonneau, Patrizia, Safiedeen, Zainab, Prunier-Mirebeau, Delphine, Chupin, Stéphanie, Gadras, Cédric, Tessier, Lydie, Gueguen, Naïg, Chevrollier, Arnaud, Desquiret-Dumas, Valérie, Ferré, Marc, Bris, Céline, Nzoughet, Judith Kouassi, Bocca, Cinzia, Leruez, Stéphanie, Verny, Christophe, Miléa, Dan, Bonneau, Dominique, and Lenaers, Guy

Subjects
LEBER'S congenital amaurosis, NEUROPATHY, MITOCHONDRIAL DNA, GENETIC mutation, FIBROBLASTS, HIGH performance liquid chromatography, PROTEIN metabolism, BIOCHEMISTRY, CELL culture, DNA, GENES, INSECTICIDES, LONGITUDINAL method, OPTIC nerve diseases, PROTEINS, PYRIDINE, ISOFLAVONES
Abstract

Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. As the precise action of mitochondrial DNA mutations on the overall cell metabolism in Leber's hereditary optic neuropathy is unknown, we investigated the metabolomic profile of the disease. High performance liquid chromatography coupled with tandem mass spectrometry was used to quantify 188 metabolites in fibroblasts from 16 patients with Leber's hereditary optic neuropathy and eight healthy control subjects. Latent variable-based statistical methods were used to identify discriminating metabolites. One hundred and twenty-four of the metabolites were considered to be accurately quantified. A supervised orthogonal partial least squares discriminant analysis model separating patients with Leber's hereditary optic neuropathy from control subjects showed good predictive capability (Q 2cumulated = 0.57). Thirty-eight metabolites appeared to be the most significant variables, defining a Leber's hereditary optic neuropathy metabolic signature that revealed decreased concentrations of all proteinogenic amino acids, spermidine, putrescine, isovaleryl-carnitine, propionyl-carnitine and five sphingomyelin species, together with increased concentrations of 10 phosphatidylcholine species. This signature was not reproduced by the inhibition of complex I with rotenone or piericidin A in control fibroblasts. The importance of sphingomyelins and phosphatidylcholines in the Leber's hereditary optic neuropathy signature, together with the decreased amino acid pool, suggested an involvement of the endoplasmic reticulum. This was confirmed by the significantly increased phosphorylation of PERK and eIF2α, as well as the greater expression of C/EBP homologous protein and the increased XBP1 splicing, in fibroblasts from affected patients, all these changes being reversed by the endoplasmic reticulum stress inhibitor, TUDCA (tauroursodeoxycholic acid). Thus, our metabolomic analysis reveals a pharmacologically-reversible endoplasmic reticulum stress in complex I-related Leber's hereditary optic neuropathy fibroblasts, a finding that may open up new therapeutic perspectives for the treatment of Leber's hereditary optic neuropathy with endoplasmic reticulum-targeting drugs. [ABSTRACT FROM AUTHOR]

Published
2016
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32. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author

Daniele Cusi, Etsuo Chihara, Leyla Al-Jasim, Ya Xing Wang, Tero Kivelä, Jinghong Sang, Adeyinka O. Ashaye, Bowen Zhao, Tan Do, Susanne Moebus, Ursula Schlötzer-Schrehardt, Shamira A. Perera, Augustine W O Cheong, Afsaneh Naderi Beni, Francisco A. Escudero-Domínguez, Yoshiaki Kiuchi, Tomomi Higashide, DS Klobassa, Friedrich E. Kruse, Nicole Weisschuh, Chunyan Qiao, Muhammad Imran Khan, Martin L. Hibberd, Arthur J. Sit, Jamie E Craig, Akitoshi Yoshida, Periasamy Sundaresan, Humaira Ayub, Kathryn P. Burdon, Jonathan G Crowston, Kazunori Miyata, Marisa Cruz-Aguilar, Markus M. Nöthen, Hasnaa Lamari, Michael A. Hauser, Louis R. Pasquale, Anneke I. den Hollander, Eija Vesti, Ursula Hoja, Raphael Q Soh, Burcu Kasım, Adeola O Onakoya, Rachel W. Kuchtey, Eugeny L. Akopov, Liang Xu, Juan Carlos Zenteno, Chaiwat Teekhasaenee, Saleh A. Al-Obeidan, Eleftherios Anastasopoulos, Anita S Y Chan, Nagahisa Yoshimura, John Kuchtey, Naris Kitnarong, Yaan Fun Chong, Boonsong Wanichwecharugruang, R.R. Fayzrakhmanov, Paul Mitchell, N Kalpana, Unnur Thorsteinsdottir, Kei Tashiro, Rajesh Kumar, Jin Wook Jeoung, Deepak P. Edward, Frederico Martinon-Torres, Bilge Batu, Anavaj Sakuntabhai, Robert N. Weinreb, Héctor González-Iglesias, Sasan Moghimi, Jia Nee Foo, Nkechi J Uche, Karen Curtin, Kenji Inoue, Lingam Vijaya, Makoto Aihara, Dilek Aktas, Norimoto Gotoh, Wasu Supakontanasan, Laura Dallorto, Takako Sugimoto, Jonathan L. Haines, Olusola Olawoye, Janey L. Wiggs, Sripriya Sarangapani, Craig J. Chaya, Theofanis Pappas, Fotis Topouzis, Eranga N. Vithana, Steffen Heegaard, Fridbert Jonasson, Kazuhiko Mori, Idakwo Ugbede, Hongyan Jia, Anthi Chatzikyriakidou, Robert P. Igo, Soon Cheol Cha, Yueming Chen, Su-Ling Ho, Zhenglin Yang, Jost B. Jonas, Francesca Pasutto, Ken Hayashi, Rahat Husain, Georg Mossböck, S Fabian Lerner, R. Rand Allingham, Priti Sahay, Fumihiko Matsuda, Yanin Suwan, Teresa Rolle, Robert Ritch, Peter Kraft, Trevor R. Carmichael, Kar Seng Sim, Raheel Qamar, Gordana Sunaric Megevand, Tomasz Zarnowski, Shazia Micheal, Scott Thomas, Paolo Frezzotti, Vera Vysochinskaya, Linda M. Zangwill, Alina Popa Cherecheanu, Tin Aung, Jessica N. Cooke Bailey, Kyu Hyung Park, Edward Dervan, Suhanya Okeke, Pablo Fornero, Sidi M Ezzouhairi, Pascal Reynier, Gudmar Thorleifsson, Michael V. Dubina, Kazuhisa Sugiyama, Sylvain Roy, Per Kappelgaard, Mineo Ozaki, Vijayan Saravanan, Carlo Lavia, Wenda L. Greer, Takanori Mizoguchi, Alireza Lashay, A. Binder, Daniel Berner, Su Qin Peh, Balram Chowbay, Nino Kobakhidze, Ifeoma N. Asimadu, Delia Sivori, Gopalakrishnan Prakadeeswari, Alexandros Lambropoulos, Michael Coote, Sergei Y. Astakhov, Shahin Yazdani, Dan Milea, Montserrat García, Lydia Álvarez, Kenji Yamashiro, Soumya Raychaudhuri, Pratap Challa, Aparna Rao, Jae H. Kang, Khai Koon Heng, Richard K. Lee, Tien Yin Wong, Alex W. Hewitt, Yoko Ikeda, Kessara Pathanapitoon, Panayiota Founti, Daniella Bach-Holm, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michèle Ramsay, Nkiru Kizor-Akaraiwe, Yosai Mori, Antonio Maria Fea, Chandrashekaran Shivkumar, Xiao Yu Ng, Jie Jin Wang, Erika Salvi, Giang T T Nguyn, Steffen Uebe, Tamara Zompa, Anne L. Coleman, Werner Zenz, Min Sagong, Luis Fernández-Vega Cueto, Farah Akhtar, Susan Williams, Sarah C. Nelson, Bradford J. Shingleton, Ryuichi Ideta, Leon W. Herndon, Zheng Li, Murat Irkec, M. Roy Wilson, Ewa Kosior-Jarecka, Christian Y. Mardin, Mozhgan Rezaei Kanavi, Tsutomu Ohashi, Abderrahman Rafei, Rengaraj Venkatesh, Stefan Herms, George Chichua, Mohammad Pakravan, Robyn M. Rautenbach, Shi Qi Mok, Trình V Nguyn, Patricio G. Schlottmann, Nassim Khatibi, Daniel Gaston, Masaru Inatani, Morio Ueno, Mukharram M. Bikbov, Eoin Silke, Homa Naderifar, Linda Hansapinyo, Paolo Manunta, Z. Xie, Urszula Lukasik, Eray Atalay, Lulin Huang, Xuyang Liu, Chie Sotozono, Shuang Ru Goh, John H. Fingert, Richard A. Mills, Khaled K. Abu-Amero, Xiao Yin Chen, Matthias Zenkel, Sergo Tabagari, Irma Järvelä, Xueyi Chen, Stéphanie Leruez, Yury S. Astakhov, Sonia Davila, Yildirim Nilgün, Ronnie George, Shin-ichi Manabe, Miguel Coca-Prados, Masahiro Miyake, Ignacio Lischinsky, Rogelio González-Sarmiento, Arkasubhra Ghosh, A. Emelyanov, Çilingir Oguz, Masakazu Nakano, Rohit Shetty, Karen Bedard, Toshiya Sakurai, Yutao Liu, Barbara M Wirostko, Hui Zhang, Ulrich-Christoph Welge-Luessen, Toshiaki Kubota, Vania Castro, Hip X Nguyn, Liyun Jia, Ari Ziskind, Hideki Chuman, Andrew C. Orr, Satoko Nakano, Daniela Paoli, Masahide Yanagi, Aravind Haripriya, Kari Stefansson, Pedro Pablo Rodríguez-Calvo, Hui Meng Soo, Chiea Chuen Khor, Gyulli M. Kazakbaeva, Osvaldo Cuello, Mei Chin Lee, Ki Ho Park, Natalia Porporato, Lourdes de Juan Marcos, Ching-Yu Cheng, Shigeyasu Kazama, Shigeru Kinoshita, Axel M. Hillmer, Alan S. Crandall, Victor H. K. Yong, Ohoud Owaidhah, Rodolfo Perez Grossmann, Jeeyun Ahn, André Reis, Nevbahar Tamçelik, Satoshi Ishiko, Antonio Salas, Ningli Wang, Singapore Eye Research Institute [Singapore] (SERI), Ozaki Eye Hospital [Miyazaki], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), deCODE genetics [Reykjavik], Mizoguchi Eye Hospital [Sasebo], Case Western Reserve University [Cleveland], Aravind Eye Hospital [Madurai, India], University of the Witwatersrand [Johannesburg] (WITS), Pavlov First Saint Petersburg State Medical University [St. Petersburg], Dalhousie University [Halifax], Flinders University [Adelaide, Australia], Kyoto Prefectural University of Medicine [Kyoto, Japon], King Saud University [Riyadh] (KSU), Genome Institute of Singapore (GIS), Aravind Medical Research Foundation (AMRF), Université de Médecine Carol Davila, Harvard Medical School [Boston] (HMS), University of Washington [Seattle], Hayashi Eye Hospital [Fukuoka], Shinjo Eye Clinic [Nagoya], Medical University of Lublin, Inoue Eye Hospital [Tokyo], Hacettepe University = Hacettepe Üniversitesi, Universidad de Oviedo [Oviedo], Kanazawa University (KU), Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Organizacion Medica de Investigacion (OMI BUENOS AIRES), Fundacion para el Estudio del Glaucoma [Buenos Aires], Chercheur indépendant, Eskisehir Osmangazi University, Ufa Eye Research Institute [Bashkortostan], Seoul National University Hospital, Yeungnam University [South Korea], Kyoto University, Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Universität Heidelberg [Heidelberg] = Heidelberg University, Birla Institute of Scientific Research (BISR), B. M. Birla Science and Technology Center, Faculty of Computer Science, Department of Pathology and Immunology, Geneva University Hospital (HUG), Key Laboratory for Information System Security, ministry of education, Numerical modeling and high performance computing for evolution problems in complex domains and heterogeneous media (NACHOS), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (LJAD), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institute of Human Genetics [Erlangen, Allemagne], Department of Ophthalmology, School of Medicine [Thessaloniki, Grèce], Aristotle University of Thessaloniki, Università degli Studi di Siena = University of Siena (UNISI), Department of Medicine, Surgery, and Dentistry, University of Milano, Japan Advanced Institute of Science and Technology (JAIST), Etudes génomiques trans-ethniques des maladies multifactorielles, Kyoto University-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Archaeogenetics Laboratory, Génétique fonctionnelle des Maladies infectieuses - Functional Genetics of Infectious Diseases, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Rheinische Friedrich-Wilhelms-Universität Bonn, University of Kentucky (UK), Helsinki University Eye Hospital, Turku University Hospital, Turku, Finland, COMSATS Institute of Information Technology (CIIT), Department of Epidemiology, Harvard School of Public Health, University of Miami Leonard M. Miller School of Medicine (UMMSM), Brigham and Women's Hospital [Boston], Department of Neuroscience and Pharmacology, Section of Eye Pathology, University of Copenhagen, University of Copenhagen = Københavns Universitet (UCPH), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of California [San Diego] (UC San Diego), University of California (UC), University of Iceland [Reykjavik], New York Eye and Ear Infirmary of Mount Sinai [New York] (NYEE), Oita University Faculty of Medicine [Oita, Japon], Radboud University Medical Center [Nijmegen], Oogheelkunde, RS: FHML non-thematic output, Kyoto University [Kyoto], Universidad Nacional Autónoma de México (UNAM), Universität Heidelberg [Heidelberg], Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (JAD), Dipartimento di Scienze oftalmologiche e Neurochirurgiche, Universita' degli Studi di Siena, Siena, Kyoto University [Kyoto]-Institut National de la Santé et de la Recherche Médicale (INSERM), Rothschild Hospital, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of Kentucky, University of Copenhagen = Københavns Universitet (KU), University of California, Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlötzer Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P, Haripriya, Aravind, Williams, Susan E, Astakhov, Yury S, Orr, Andrew C, Burdon, Kathryn P, Nakano, Satoko, Mori, Kazuhiko, Abu Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H, Nelson, Sarah, Hayashi, Ken, Manabe, Shin Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C, Jonas, Jost B, Kumar, Rajesh S, Perera, Shamira A, Chan, Anita S. Y, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P, de Juan Marcos, Lourde, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthia, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge Luessen, Ulrich Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofani, Anastasopoulos, Eleftherio, Lambropoulos, Alexandro, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R, Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz Aguilar, Marisa, Ezzouhairi, Sidi M, Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H. K, Khan, Muhammad Imran, Olawoye, Olusola O, Ashaye, Adeyinka O, Ugbede, Idakwo, Onakoya, Adeola, Kizor Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi J, Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Grossmann, Rodolfo Perez, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A, Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W, Coote, Michael, Crowston, Jonathan G, Astakhov, Sergei Y, Akopov, Eugeny L, Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al Obeidan, Saleh A, Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q, Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W. O, Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su Ling, Hillmer, Axel M, Cheng, Ching Yu, Escudero Domínguez, Francisco A, González Sarmiento, Rogelio, Martinon Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Nari, Sakuntabhai, Anavaj, Nguyn, Hip X, Nguyn, Giang T. T, Nguyn, Trình V, Zenz, Werner, Binder, Alexander, Klobassa, Daniela S, Hibberd, Martin L, Davila, Sonia, Herms, Stefan, Nöthen, Markus M, Moebus, Susanne, Rautenbach, Robyn M, Ziskind, Ari, Carmichael, Trevor R, Ramsay, Michele, Álvarez, Lydia, García, Montserrat, González Iglesias, Héctor, Rodríguez Calvo, Pedro P, Cueto, Luis Fernández Vega, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasım, Burcu, Wilson, M. Roy, Coleman, Anne L, Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W, Kuchtey, John, Curtin, Karen, Chaya, Craig J, Crandall, Alan, Zangwill, Linda M, Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I, Vesti, Eija, Fingert, John H, Lee, Richard K, Sit, Arthur J, Shingleton, Bradford J, Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak Vance, Margaret A, Raychaudhuri, Soumya, Heegaard, Steffen, Kivelä, Tero, Reis, André, Kruse, Friedrich E, Weinreb, Robert N, Pasquale, Louis R, Haines, Jonathan L, Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R. Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N, Micheal, Shazia, Topouzis, Foti, Craig, Jamie E, Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L, Pasutto, Francesca, Khor, Chiea Chuen, University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], and University of Helsinki

Subjects
0301 basic medicine, Male, Calcium Channels/genetics, Messenger, Medizin, PSEUDOEXFOLIATION SYNDROME, Genome-wide association study, BLOOD-PRESSURE, Disease, Exfoliation Syndrome, Eye, Exfoliation Syndrome/ethnology/genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, PARKINSONS-DISEASE, 80 and over, ta319, Missense mutation, Genetics, Aged, 80 and over, Amino Acid Oxidoreductases/genetics/physiology, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian Continental Ancestry Group, Calcium Channels, Cell Adhesion, Extracellular Matrix, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Haplotypes, Humans, Molecular Chaperones, RNA, Messenger, Spheroids, Cellular, Genome-Wide Association Study, Mutation, Missense, Point Mutation, Metaanalysis, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, ALZHEIMERS-DISEASE, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Molecular Chaperones/biosynthesis/genetics, Biology, SYNONYMOUS MUTATIONS, ta3111, Article, 03 medical and health sciences, Asian People, Asian Continental Ancestry Group/genetics, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Allele, Risk factor, GENOME-WIDE ASSOCIATION, Eye/metabolism, Aged, Genetic association, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Haplotype, Individuals, Glaucoma, Odds ratio, Extracellular Matrix/metabolism, RNA, Messenger/biosynthesis, MACULAR DEGENERATION, RISK LOCI, eye diseases, COMMON SEQUENCE VARIANTS, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, 030221 ophthalmology & optometry, RNA, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Cellular, Spheroids, Missense, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Polymorphisms, purl.org/pe-repo/ocde/ford#1.06.07 [https], INFLAMMATORY-BOWEL-DISEASE
Abstract

International audience; Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations,and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR= 25, P=2.9 x 10-14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 x 10-8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017
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33. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Author

Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, and Lenaers G

Abstract

Objective: To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations., Methods: Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI., Results: We identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2 . Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported., Conclusions: Our results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)

Published
2020
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34. Nicotinamide Deficiency in Primary Open-Angle Glaucoma.

Author

Kouassi Nzoughet J, Chao de la Barca JM, Guehlouz K, Leruez S, Coulbault L, Allouche S, Bocca C, Muller J, Amati-Bonneau P, Gohier P, Bonneau D, Simard G, Milea D, Lenaers G, Procaccio V, and Reynier P

Subjects
Adult, Aged, Aged, 80 and over, Case-Control Studies, Chromatography, Liquid, Cohort Studies, Female, Glaucoma, Open-Angle diagnosis, Humans, Intraocular Pressure, Male, Middle Aged, Spectrometry, Mass, Electrospray Ionization, Glaucoma, Open-Angle blood, Niacinamide deficiency
Abstract

Purpose: To investigate the plasma concentration of nicotinamide in primary open-angle glaucoma (POAG)., Methods: Plasma of 34 POAG individuals was compared to that of 30 age- and sex-matched controls using a semiquantitative method based on liquid chromatography coupled to high-resolution mass spectrometry. Subsequently, an independent quantitative method, based on liquid chromatography coupled to mass spectrometry, was used to assess nicotinamide concentration in the plasma from the same initial cohort and from a replicative cohort of 20 POAG individuals and 15 controls., Results: Using the semiquantitative method, the plasma nicotinamide concentration was significantly lower in the initial cohort of POAG individuals compared to controls and further confirmed in the same cohort, using the targeted quantitative method, with mean concentrations of 0.14 μM (median: 0.12 μM; range, 0.06-0.28 μM) in the POAG group (-30%; P = 0.022) and 0.19 μM (median: 0.18 μM; range, 0.08-0.47 μM) in the control group. The quantitative dosage also disclosed a significantly lower plasma nicotinamide concentration (-33%; P = 0.011) in the replicative cohort with mean concentrations of 0.14 μM (median: 0.14 μM; range, 0.09-0.25 μM) in the POAG group, and 0.19 μM (median: 0.21 μM; range, 0.09-0.26 μM) in the control group., Conclusions: Glaucoma is associated with lower plasmatic nicotinamide levels, compared to controls, suggesting that nicotinamide supplementation might become a future therapeutic strategy. Further studies are needed, in larger cohorts, to confirm these preliminary findings.

Published
2019
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