Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
- 27 October 2009
- journal article
- Published by Wiley in Electrophoresis
- Vol. 30 (20), 3565-3572
- https://doi.org/10.1002/elps.200900213
Abstract
Complex V, site of the final step in oxidative phosphorylation, uses the proton gradient across the inner mitochondrial membrane for the production of ATP. It is a multi‐subunit complex composed of a catalytic domain (F1) and a membrane domain (F0) linked by two stalks. Subcomplexes of complex V containing the F1 domain have previously been reported in small series of patients. We report the results in tissue samples and/or cultured skin fibroblasts studied by blue native PAGE followed by activity staining in the gel. Catalytically active subcomplexes of complex V were detected in 66 tissues originating from 53 patients. In 29 of the latter (55%), a mitochondrial DNA (mtDNA) defect was identified. Twelve patients had a pathogenic point mutation in a mitochondrial tRNA, one a large mtDNA deletion, 12 showed mtDNA depletion and four had a mutation in the MT‐ATP6 gene. We conclude that the presence of subcomplexes of complex V is a valuable indicator in the detection of mtDNA defects.Keywords
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