DIABETES-MELLITUS AND CARDIOMYOPATHY - ASSOCIATION WITH MUTATION IN THE MITOCHONDRIAL TRNA(LEU(UUR))GENE

In this report, cardiac abnormalities in 2 diabetic patients with a mu tation in the mitochondrial tRNA(Leu(UUR)) gene are described. The 2 p atients exhibited left ventricular dilation and diffuse decreased wall motion. Cardiac catheterization studies revealed normal coronary angi ography. In both patients, light microscopic examination of hematoxyli n and eosin-stained sections revealed myocyte hypertrophy and perinucl ear vacuolization and electron microscopy revealed an increase in the number and size of mitochondria and abnormal configuration of cristae. These findings suggest that mutations in mitochondrial DNA, such as a n A --> G mutation at position 3243, should be considered as a cause n ot only of diabetes mellitus but also of cardiac involvement in patien ts with diabetes mellitus.