Diabetes Mellitus and Cardiomyopathy - Association With Mutation in the Mitochondrial tRNA ^<Leu(UUR)> gene -

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  • SHIOTANI Hideyuki
    Faculty of Health Science, Kobe University School of Medicine
  • UENO Hiroshi
    Department of Cardiovascular and metabolism, Hyougo Medical Center for Adults
  • INOUE Satoko
    Department of Cardiovascular and metabolism, Hyougo Medical Center for Adults
  • YOKOTA Yoshiyuki
    Faculty of Health Science, Kobe University School of Medicine
  • YOKOYAMA Mitsuhiro
    First Department of Internal Medicine, Kobe University School of Medicine

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説明

In this report, cardiac abnormalities in 2 diabetic patients with a mutation in the mitochondrial tRNA^<Leu(UUR)>gene are described. The 2 patients exhibited left ventricular dilation and diffuse decreased wall motion. Cardiac catheterization studies revealed normal coronary angiography. In both patients, light micro-scopic examination of hematoxylin and eosin-stained sections revealed myocyte hypertrophy and perinuclear 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 an A→G mutation at position 3243, should be considered as a cause not only of diabetes mellitus but also of cardiac involvement in patients with diabetes mellitus.

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