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ATP Synthase Diseases of Mitochondrial Genetic Origin

Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP...

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Autores principales: Dautant, Alain, Meier, Thomas, Hahn, Alexander, Tribouillard-Tanvier, Déborah, di Rago, Jean-Paul, Kucharczyk, Roza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893901/
https://www.ncbi.nlm.nih.gov/pubmed/29670542
http://dx.doi.org/10.3389/fphys.2018.00329
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author Dautant, Alain
Meier, Thomas
Hahn, Alexander
Tribouillard-Tanvier, Déborah
di Rago, Jean-Paul
Kucharczyk, Roza
author_facet Dautant, Alain
Meier, Thomas
Hahn, Alexander
Tribouillard-Tanvier, Déborah
di Rago, Jean-Paul
Kucharczyk, Roza
author_sort Dautant, Alain
collection PubMed
description Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP synthases, and the availability of genetically approachable systems such as the yeast Saccharomyces cerevisiae, we can begin to understand these molecular machines and their associated defects at the molecular level. In this review, we describe what is known about the clinical syndromes induced by 58 different mutations found in the mitochondrial genes encoding membrane subunits 8 and a of ATP synthase, and evaluate their functional consequences with respect to recently described cryo-EM structures.
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spelling pubmed-58939012018-04-18 ATP Synthase Diseases of Mitochondrial Genetic Origin Dautant, Alain Meier, Thomas Hahn, Alexander Tribouillard-Tanvier, Déborah di Rago, Jean-Paul Kucharczyk, Roza Front Physiol Physiology Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP synthases, and the availability of genetically approachable systems such as the yeast Saccharomyces cerevisiae, we can begin to understand these molecular machines and their associated defects at the molecular level. In this review, we describe what is known about the clinical syndromes induced by 58 different mutations found in the mitochondrial genes encoding membrane subunits 8 and a of ATP synthase, and evaluate their functional consequences with respect to recently described cryo-EM structures. Frontiers Media S.A. 2018-04-04 /pmc/articles/PMC5893901/ /pubmed/29670542 http://dx.doi.org/10.3389/fphys.2018.00329 Text en Copyright © 2018 Dautant, Meier, Hahn, Tribouillard-Tanvier, di Rago and Kucharczyk. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Physiology
Dautant, Alain
Meier, Thomas
Hahn, Alexander
Tribouillard-Tanvier, Déborah
di Rago, Jean-Paul
Kucharczyk, Roza
ATP Synthase Diseases of Mitochondrial Genetic Origin
title ATP Synthase Diseases of Mitochondrial Genetic Origin
title_full ATP Synthase Diseases of Mitochondrial Genetic Origin
title_fullStr ATP Synthase Diseases of Mitochondrial Genetic Origin
title_full_unstemmed ATP Synthase Diseases of Mitochondrial Genetic Origin
title_short ATP Synthase Diseases of Mitochondrial Genetic Origin
title_sort atp synthase diseases of mitochondrial genetic origin
topic Physiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893901/
https://www.ncbi.nlm.nih.gov/pubmed/29670542
http://dx.doi.org/10.3389/fphys.2018.00329
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