Evidence map›Paper›PMID 32802947›Full record

ArticleNeurology. Genetics2020

Homoplasmic mitochondrial tRNA

Karine Auré, Guillemette Fayet, Ivan Chicherin, Benoit Rucheton, Sandrine Filaut, Anne-Marie Heckel, Julie Eichler, Florence Caillon, Yann Péréon, Nina Entelis and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 46% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 1 institution in 2 countries.

Karine AuréInserm 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 FayetInserm 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 ChicherinInserm 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 RuchetonInserm 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 FilautInserm 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 HeckelInserm 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 EichlerInserm 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 CaillonInserm 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 PéréonInserm 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 EntelisInserm 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 TarassovInserm 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 LombèsInserm 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
Centre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo demonstrate the causal role in disease of the

methodsLactate 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.

resultsAll 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,

conclusionsThe homoplasmic

Identifiers

PMID32802947
PMCPMC7371370
OpenAlexW3043749350

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