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1. Reply: The expanding neurological phenotype of DNM1L-related disorders

Author

Isabelle Meunier, Tanguy Chaumette, Dominique Bonneau, Benoît Funalot, Aurelien Paris, Didier Bouccara, Marlène Rio, Patrizia Amati-Bonneau, Jean-Michel Rozet, Guy Lenaers, Pascal Reynier, Cécile Delettre, Arnaud Chevrollier, Vincent Procaccio, Majida Charif, Christian P. Hamel, Sylvie Gerber, Selma Kane, Raphael Calmon, Josseline Kaplan, Claire Angebault, Jennifer Alban, Mélanie Quiles, Hiromi Sesaki, Nathalie Boddaert, Stéphanie Leruez, 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), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuropathies du système nerveux entérique et pathologies digestives, implication des cellules gliales entériques, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Chirurgie otologique mini-invasive robotisée, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Cell Biology, Baltimore, Johns Hopkins University School of Medicine, Handicaps génétiques de l'enfant (Inserm U393), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), 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), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), LENAERS, Guy, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Institut des Neurosciences de Montpellier (INM)

Subjects
0301 basic medicine, Dynamins, [SDV]Life Sciences [q-bio], education, Bioinformatics, Mitochondrial Dynamics, GTP Phosphohydrolases, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Text mining, Optic Atrophy, Autosomal Dominant, Medicine, Humans, ComputingMilieux_MISCELLANEOUS, business.industry, Phenotype, eye diseases, [SDV] Life Sciences [q-bio], 030104 developmental biology, Mutation, Neurology (clinical), business, Microtubule-Associated Proteins, 030217 neurology & neurosurgery
Abstract

Comment on :Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. [Brain. 2017]The expanding neurological phenotype of DNM1L-related disorders. [Brain. 2018]; International audience; Letter to the editor

Published
2018
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2. Current mechanistic insights into the CCCP-induced cell survival response

Author

Julien Cassereau, Guy Lenaers, Philippe Codron, Aurelien Paris, Mariame Selma Kane, Arnaud Chevrollier, Pascal Reynier, Vincent Procaccio, 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
0301 basic medicine, Pharmacology, Carbonyl Cyanide p-Trifluoromethoxyphenylhydrazone, Carbonyl Cyanide m-Chlorophenyl Hydrazone, Cell Survival, Autophagy, Mitochondrial Degradation, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Mitochondrion, Carbonyl cyanide m-chlorophenyl hydrazone, Biochemistry, Cell biology, mitochondria, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, chemistry, Cellular stress response, Mitophagy, TFEB, Animals, Carbonyl cyanide-p-trifluoromethoxyphenylhydrazone
Abstract

International audience; The ring-substituted derivatives of carbonyl cyanide phenylhydrazone, CCCP and FCCP, are routinely used for the analysis of the mitochondrial function in living cells, tissues, and isolated mitochondrial preparations. CCCP and FCCP are now being increasingly used for investigating the mechanisms of autophagy by inducing mitochondrial degradation through the disruption of the mitochondrial membrane potential (ΔΨm). Sustained perturbation of ΔΨm, which is normally tightly controlled to ensure cell proliferation and survival, triggers various stress pathways as part of the cellular adaptive response, the main components of which are mitophagy and autophagy. We here review current mechanistic insights into the induction of mitophagy and autophagy by CCCP and FCCP. In particular, we analyze the cellular modifications produced by the activation of two major pathways involving the signaling of the nuclear factor erythroid 2-related factor 2 (Nrf2) and the transcription factor EB (TFEB), and discuss the contribution of these pathways to the integrated cellular stress response.

Published
2018
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