ATP synthase diseases of mitochondrial genetic origin
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Published version
Author(s)
Type
Journal Article
Abstract
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.
Date Issued
2018-04-04
Online Publication Date
2018-04-04
Date Acceptance
2018-03-15
ISSN
1664-042X
Publisher
Frontiers Media
Journal / Book Title
Frontiers in Physiology
Volume
9
Copyright Statement
© 2018 Dautant, Meier, Hahn, Tribouillard-Tanvier, di Rago and
Kucharczyk. 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.
Kucharczyk. 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.
Source Database
manual-entry
Sponsor
Wellcome Trust
Wellcome Trust
Wellcome Trust
Grant Number
110068/Z/15/Z
WT110068/Z/15/Z
WT110068/B/15/Z
Publication Status
Published
Article Number
ARTN 329