Guillet 2010 neurogenetics

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Publications in the MiPMap
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.

» PMID: 19618221

Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Neurogenetics

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: Charcot–Marie–Tooth-CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase

O2k-Network Lab: FR Angers Gueguen N


Labels: MiParea: Respiration, nDNA;cell genetics  Pathology: Other 

Organism: Human  Tissue;cell: Fibroblast  Preparation: Enzyme  Enzyme: Adenine nucleotide translocase, Complex II;succinate dehydrogenase  Regulation: Coupling efficiency;uncoupling  Coupling state: OXPHOS 

HRR: Oxygraph-2k