Cassereau 2009 Neurogenetics
Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P (2009) Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 10: 145-150. |
Β» [[Has info::PMID: 19089472]]
Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P (2009) Neurogenetics
Abstract: 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.719Gβ>βA). 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. β’ Keywords: GDAP1, Autosomal dominant Charcot-Marie-Tooth disease, CMT2K, Mitochondrial dynamics, Complex I
β’ O2k-Network Lab: FR_Angers_Douay O
Labels:
Stress:Genetic Defect; Knockdown; Overexpression Organism: Human Tissue;cell: Nervous system Preparation: Intact Cell; Cultured; Primary Enzyme: Complex I Regulation: Mitochondrial Biogenesis; Mitochondrial Density Coupling state: OXPHOS
HRR: Oxygraph-2k