Difference between revisions of "Guillet 2010 neurogenetics"
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|abstract=CharcotāMarieāTooth 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 patientsā 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. | |abstract=CharcotāMarieāTooth 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 patientsā 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=CharcotāMarieāTooth-CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase | |keywords=CharcotāMarieāTooth-CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase | ||
|mipnetlab=FR Angers | |mipnetlab=FR Angers Gueguen N | ||
|discipline=Biomedicine | |discipline=Biomedicine | ||
}} | }} | ||
Latest revision as of 12:38, 16 February 2018
| 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. |
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: CharcotāMarieāTooth 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 patientsā 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. ā¢ Keywords: CharcotāMarieāTooth-CMT2A, MFN2, Mitochondria, Adenine nucleotide translocase
ā¢ 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
