Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease
2007; Wiley; Volume: 61; Issue: 4 Linguagem: Inglês
10.1002/ana.21086
ISSN1531-8249
AutoresDominique Loiseau, Arnaud Chevrollier, Christophe Verny, Virginie Guillet, Naïg Guéguen, Marie‐Anne Pou de Crescenzo, Marc Ferré, Marie‐Claire Malinge, Agnès Guichet, Guillaume Nicolas, Patrizia Amati‐Bonneau, Yves Malthièry, Dominique Bonneau, Pascal Reynier,
Tópico(s)Mitochondrial Function and Pathology
ResumoAbstract 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. Ann Neurol 2007;61:315–323
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