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 10:145-50.|
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.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.
• Keywords: GDAP1, Autosomal dominant Charcot-Marie-Tooth disease, CMT2K, Mitochondrial dynamics, Complex I
• O2k-Network Lab: FR Angers Gueguen N
Labels: MiParea: Respiration, mt-Biogenesis;mt-density, mt-Structure;fission;fusion, mt-Membrane, nDNA;cell genetics, mt-Medicine, Patients Pathology: Inherited, Neurodegenerative
Organism: Human Tissue;cell: Nervous system Preparation: Intact cells Enzyme: Complex I
Coupling state: OXPHOS