Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Archive ouverte

Cassereau, Julien | Chevrollier, Arnaud | Gueguen, Naïg | Malinge, Marie-Claire | Letournel, Franck | Nicolas, Guillaume | Richard, Laurence | Ferré, Marc | Verny, Christophe | Dubas, Frédéric | Procaccio, Vincent | Amati-Bonneau, Patrizia | Bonneau, Dominique | Reynier, Pascal

Edité par CCSD ; Springer Verlag -

International audience.

Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant GDAP1 mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in fibroblasts from CMT2K patients was 40% lower than in controls, whereas the tubular mitochondria were 33% larger in diameter and the mitochondrial mass was 20% greater. Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume.

• Description
• Sujet/Public
• Outil
• Outil d'anticipation
• Mémoire et thèse
• Gestion