Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

被引：122

作者：

Loiseau, Dominique

Chevrollier, Arnaud

Verny, Christophe

Guillet, Virginie

Gueguen, Naig

de Crescenzo, Marie-Anne Pou

Ferre, Marc

Malinge, Marie-Claire

Guichet, Agnes

Nicolas, Guillaume

Amati-Bonneau, Patrizia

Malthiery, Yves

Bonneau, Dominique

Reynier, Pascal ^{[1
]}

机构：

[1] CHU Angers, Dept Biochim & Genet, INSERM, U694, F-49033 Angers, France

[2] CHU Angers, Dept Neurol, F-49033 Angers, France

[3] Univ Angers, Angers, France

[4] INSERM, U694, Angers, France

来源：

ANNALS OF NEUROLOGY | 2007年 / 61卷 / 04期

关键词：

D O I：

10.1002/ana.21086

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the cases of Charcot-Marie-Tooth disease type 2 (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2-related CMT2A. Methods: Mitochondrial network morphology and metabolism were studied in cultures of skin fibroblasts obtained from four CMT2A patients harboring novel missense mutations of the MFN2 gene. Results: Although the mitochondrial network appeared morphologically unaltered, there was a significant defect of mitochondrial coupling associated with a reduction of the mitochondrial membrane potential. Interpretation: Our results suggest that the sharply reduced efficacy of oxidative phosphorylation in MFN2-related CMT2A may contribute to the pathophysiology of the axonal neuropathy.

引用

页码：315 / 323

页数：9

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