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01-02-2010 | SHORT COMMUNICATION

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

Authors: Virginie Guillet, Naïg Gueguen, Christophe Verny, Marc Ferre, Chadi Homedan, Dominique Loiseau, Vincent Procaccio, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier, Arnaud Chevrollier

Published in: Neurogenetics | Issue 1/2010

Abstract

Charcot–Marie–Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patients’ fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges.

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Title: Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease
Authors: Virginie Guillet
Naïg Gueguen
Christophe Verny
Marc Ferre
Chadi Homedan
Dominique Loiseau
Vincent Procaccio
Patrizia Amati-Bonneau
Dominique Bonneau
Pascal Reynier
Arnaud Chevrollier
Publication date: 01-02-2010
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2010
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-009-0207-z

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Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

Abstract

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Springer Medicine

Abstract

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