Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome

Abstract A mutant allele quantitative assay was developed to study somatic mitochondrial mutations associated with human diseases. This assay may be used in the clinical diagnostics for diseases associated with somatic mutations. To detect somatic mutations associated with atherosclerotic lesions of the aortal intima, we analyzed 40 mitochondrial mutations previously identified in several pathological conditions. 10 mutations associated with lipofibrosis plaques were found in mitochondrial genes that encode rRNA 12S, tRNA-Leu (UUR recognition codon), tRNA-Leu (CUN recognition codon), subunits of 1, 2, 5, and 6 NADH-dehydrogenase, and cytochrome B .