Homoplasmic mitochondrial tRNA

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2020
Historique:
received: 04 12 2019
accepted: 02 06 2020
entrez: 18 8 2020
pubmed: 18 8 2020
medline: 18 8 2020
Statut: epublish

Résumé

To demonstrate the causal role in disease of the Lactate measurement, muscle histology, and mitochondrial activities in patients; PCR-based analyses of the size, amount, and sequence of muscle mitochondrial DNA (mtDNA) and proportion of the mutation; respiration, mitochondrial activities, proteins, translation, transfer RNA (tRNA) levels, and base modification state in skin fibroblasts and cybrids; and reactive oxygen species production, proliferation in the absence of glucose, and plasma membrane potential in cybrids. All patients presented with severe exercise intolerance and hyperlactatemia. They were associated with prominent exercise-induced muscle swelling, conspicuous in masseter muscles (2 families), and/or with congenital cataract (2 families). MRI confirmed exercise-induced muscle edema. Muscle disclosed severe combined respiratory defect. Muscle mtDNA had normal size and amount. Its sequence was almost identical in all patients, defining the haplotype as J1c10, and sharing 31 variants, only 1 of which, The homoplasmic

Identifiants

DOI: 10.1212/NXG.0000000000000480 PMID: 32802947 PMC: PMC7371370
pubmed: 32802947
doi: 10.1212/NXG.0000000000000480
pii: NG2019012765
pmc: PMC7371370
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e480

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Karine Auré (K)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Guillemette Fayet (G)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Ivan Chicherin (I)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Benoit Rucheton (B)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.
ORCID: 0000-0002-5893-6595

Sandrine Filaut (S)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Anne-Marie Heckel (AM)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Julie Eichler (J)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Florence Caillon (F)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.

Yann Péréon (Y)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.
ORCID: 0000-0002-0090-3571

Nina Entelis (N)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.
ORCID: 0000-0002-7915-5528

Ivan Tarassov (I)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.
ORCID: 0000-0001-8763-6703

Anne Lombès (A)

Inserm U1016 Institut Cochin (K.A., B.R., A.L.), INSERM, Paris; Department of Neurophysiology (K.A.), Foch Hospital, Suresnes; Centre de Référence Maladies Neuromusculaires Hôtel-Dieu AOC (G.F., Y.P.), CHU Nantes; CNRS UMR 7156 GMGM (I.C., A.-M.H., J.E., N.E., I.T.), University of Strasbourg; Service de Biochimie Métabolique CHU Pitié-Salpêtrière (B.R., S.F.), AP-HP, Paris; Service de Radiologie et Imagerie Médicale Hôtel-Dieu (F.C.), CHU Nantes; CNRS UMR 8104 (A.L.); Université Paris-Descartes-Paris5 (A.L.), Paris, France; and Present Address: M.V. Lomonossov State University (I.C.), Moscow, Russia.
ORCID: 0000-0002-9064-0399

Classifications MeSH