CHARACTERIZATION OF MITOCHONDRIAL-DNA IN PRIMARY CARDIOMYOPATHIES

With the aim of studying the involvement of the mitochondrial genome i n the impairment of heart function, mitochondrial DNA was analyzed by modified primer shift-polymerase chain reaction in a panel of young pa tients affected. by primary cardiomyopathies. Mitochondrial DNA molecu les harboring the 7436 bp deletion were specifically found in cardiomy opathic patients as compared with a panel of control subjects. The 497 7 bp deletion was commonly detected among the subjects analyzed wherea s none of the specific tRNA gene point mutations generally associated with the cardiomyopathic trait were detected. The presence of the 7436 bp deletion as a consequence of a premature aging of the heart muscle , secondary to heart dysfunction, is discussed.