H. Shiotani et al., DIABETES-MELLITUS AND CARDIOMYOPATHY - ASSOCIATION WITH MUTATION IN THE MITOCHONDRIAL TRNA(LEU(UUR))GENE, Japanese Circulation Journal, 62(4), 1998, pp. 309-310
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.