Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10


Journal

Acta neuropathologica
ISSN: 1432-0533
Titre abrégé: Acta Neuropathol
Pays: Germany
ID NLM: 0412041

Informations de publication

Date de publication:
07 2019
Historique:
received: 14 12 2018
accepted: 08 03 2019
revised: 21 02 2019
pubmed: 16 3 2019
medline: 22 7 2020
entrez: 16 3 2019
Statut: ppublish

Résumé

Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation in CHCHD10, from a large family with a mitochondrial myopathy associated with motor neuron disease (MND). Rapidly, our group and others reported CHCHD10 mutations in amyotrophic lateral sclerosis (ALS), frontotemporal dementia-ALS and other neurodegenerative diseases. Here, we generated knock-in (KI) mice, carrying the p.Ser59Leu mutation, that mimic the mitochondrial myopathy with mtDNA instability displayed by the patients from our original family. Before 14 months of age, all KI mice developed a fatal mitochondrial cardiomyopathy associated with enhanced mitophagy. CHCHD10

Identifiants

pubmed: 30874923
doi: 10.1007/s00401-019-01988-z
pii: 10.1007/s00401-019-01988-z
doi:

Substances chimiques

DNA-Binding Proteins 0
Mitochondrial Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

123-145

Subventions

Organisme : Agence Nationale de la Recherche
ID : ANR-16-CE16-0024-01
Pays : International
Organisme : Agence Nationale de la Recherche
ID : ANR-11-INBS-0011-NeurATRIS
Pays : International
Organisme : AFM-Téléthon
ID : #20947
Pays : International

Auteurs

Emmanuelle C Genin (EC)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Blandine Madji Hounoum (B)

Inserm U1065, C3M, Université Côte d'Azur, Nice, France.

Sylvie Bannwarth (S)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Konstantina Fragaki (K)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Sandra Lacas-Gervais (S)

Centre Commun de Microscopie Appliquée, Université Côte d'Azur, Nice, France.

Alessandra Mauri-Crouzet (A)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Françoise Lespinasse (F)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Julien Neveu (J)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Baptiste Ropert (B)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Gaelle Augé (G)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Charlotte Cochaud (C)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France.

Cynthia Lefebvre-Omar (C)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.

Stéphanie Bigou (S)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.

Aude Chiot (A)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.

Fanny Mochel (F)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.
Department of Genetics and Reference Centre for Adult Neurometabolic Diseases, AP-HP, La Pitié-Salpêtriere University Hospital, Paris, France.

Séverine Boillée (S)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.

Christian S Lobsiger (CS)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.

Delphine Bohl (D)

Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.

Jean-Ehrland Ricci (JE)

Inserm U1065, C3M, Université Côte d'Azur, Nice, France.

Véronique Paquis-Flucklinger (V)

Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France. paquis@unice.fr.

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Classifications MeSH