DELETION OF MITOCHONDRIAL-DNA IN A CASE OF EARLY-ONSET DIABETES-MELLITUS, OPTIC ATROPHY AND DEAFNESS (DIDMOAD, WOLFRAM-SYNDROME)

Since the original report by Luft et al (1962), mitochondrial disorders have been exclusively regarded as neuromuscular diseases. We have recently shown that genetic defects of the mitochondrial energy supply can also present with pancytopenia, proximal tubulopathy, or hepatic failure as the onset symptom (Munnich et al 1992). Here, we report on a severe mitochondrial enzyme deficiency in a patient with the Wolfram syndrome (Wolfram and Wagener 1938; McKusick 222300) and we describe the deletion of the mitochondrial genome between directly-repeated sequences as the possible cause of the disease.