Guillet 2010 Neurogenetics
|Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11:127-33.|
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.
• Keywords: GDAP1, Autosomal dominant Charcot-Marie-Tooth disease, CMT2K . Mitochondrial dynamics, Complex I
• O2k-Network Lab: FR Angers Gueguen N
Stress:Mitochondrial disease Organism: Human Tissue;cell: Nervous system Preparation: Intact cells Enzyme: Adenine nucleotide translocase, Complex II;succinate dehydrogenase, Uncoupling protein