Difference between revisions of "Cassereau 2009 Neurogenetics"
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{{Labeling | {{Labeling | ||
|area=Respiration, mt-Biogenesis; mt-density, mt-Structure; fission; fusion, mt-Membrane, nDNA; cell genetics, | |area=Respiration, mt-Biogenesis;mt-density, mt-Structure;fission;fusion, mt-Membrane, nDNA;cell genetics, mt-Medicine, Patients | ||
|organism=Human | |organism=Human | ||
|tissues=Nervous system | |tissues=Nervous system | ||
|preparations=Intact cells | |preparations=Intact cells | ||
|enzymes=Complex I | |enzymes=Complex I | ||
|diseases=Neurodegenerative | |diseases=Inherited, Neurodegenerative | ||
|couplingstates=OXPHOS | |couplingstates=OXPHOS | ||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
|discipline=Biomedicine | |discipline=Biomedicine | ||
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Revision as of 16:28, 11 August 2013
| 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. |
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.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_Douay O
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
HRR: Oxygraph-2k
