Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations

In this study, we characterized the structure of mitochondrial network in cultured primary fibroblasts obtained from AR‐CMT2A family members. The patient‐derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume. Interestingly, fibroblasts derived from the two asymptomatic parents showed similar changes to a lesser extent. These results support the hypothesis that AR‐CMT2A‐related MFN2 mutations acts through a semidominant negative mechanism and suggest that other biological parameters might show mild alterations in asymptomatic heterozygote AR‐CMT2A patients. Such alterations could be usefull biomarkers helping to distinguish MFN2 mutations from variants, a growing challenge with the advent of next generation sequencing into routine clinical practice.

Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Philippe Codron, Arnaud Chevrollier, Mariame Selma Kane, Andoni Echaniz ‐Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau Tags: CASE REPORT Source Type: research