Journal
NEUROGENETICS
Volume 11, Issue 1, Pages 127-133Publisher
SPRINGER
DOI: 10.1007/s10048-009-0207-z
Keywords
Charcot-Marie-Tooth; CMT2A; MFN2; Mitochondria; Adenine nucleotide translocase
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Funding
- Institut National de la Sante et de la Recherche Medicale
- University Hospital of Angers [PHRC 04-12]
- University of Angers, France
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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.
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