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GAD Antibody in Mitochondrial Diabetes Associated With tRNA(UUR) Mutation at Position 3271

  1. Yoshihiko Suzuki, MD12,
  2. Matsuo Taniyama, MD2,
  3. Akira Shimada, MD3,
  4. Yoshihito Atumi, MD1,
  5. Kempei Matsuoka, MD1 and
  6. Yoshitomo Oka, MD4
  1. 1Saiseikai Central Hospital, Tokyo, Japan
  2. 2Fujigaoka Hospital, Showa University, Kanagawa, Japan
  3. 3Department of Internal Medicine, Keio University, Tokyo, Japan
  4. 4Division of Molecular Metabolism and Diabetes, Department of Internal Medicine, Tohoku University Graduate School of Medicine, Miyagi, Japan

    A possible association of pancreatic autoimmunity with mitochondrial diabetes, which is associated with pathogenetic mitochondrial DNA (mtDNA) abnormalities (1), has been controversial. The study by Kobayashi et al. (2) and our study (3) previously reported that islet cell antibody (ICA) was detected in, respectively, 42% (13 of 31) and 18% (2 of 11) of patients with mitochondrial diabetes associated with tRNA(UUR) mutation at position 3243 (MD3243). These results support an mtDNA abnormality associated with ICA-related pancreatic autoimmune abnormality. Kobayashi et al. (2) and we (4) also reported that 6.5% (2 of 31) and 0% (0 of 11), respectively, of MD3243 patients had …

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