799-5 Point Mutations of Mitochondrial DNA in Alcoholic Heart Muscle Disease

Point mutations of mitochondrial DNA (mtDNA) were reported in various diseases. We studied them in patients with alcoholic heart muscle disease (AHMD). In habitual heavy drinkers with heart failure (ten men, mean age 53.1±8.2 years, mean daily ethanol intake 119.5±40.0 ml, mean drinking duration 30.3±7.9 years), right ventricular endomyocardial biopsies were performed. MtDNA was extracted from the specimens and amplified using PCR. Then the total base-sequence was analysed and compared with the wild type. Eight point mutations which cause amino acid substitution were detected among five patients. These point mutations were the same as previously reported in mitochondrial diseases or cardiomyopathies. Thus, Point mutations of mtDNA may be related to the pathogenesis of AHMD.