Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNALeu(UUR) mutation

Yoshihiko Suzuki, K. Nishimaki, M. Taniyama, T. Muramatsu, Y. Atsumi, K. Matsuoka, S. Ohta

Research output: Contribution to journalLetterpeer-review

17 Citations (Scopus)

Abstract

We report a patient with mitochondrial diabetes mellitus associated with the A3243G mutation (MDM3243). The patient is a 77-year man with diabetes. At age 68, he noticed diplopia, due to superior rectus muscle palsy of the right eye. At age 70, he noticed lipoma on the right arm. The pathology of his muscle revealed some ragged-red fibers, and focal cytochrome c oxidase deficiency. Hence, he may have a pathogenetic mechanism in common with CPEO (chronic progressive external ophthalmoplegia) or mitochondria-related autoimmune disorder associated with mononeuropathy. He had the rate of 0.102% for heteroplasmy of 3243 mitochondrial DNA mutation in leukocytes. This case's heteroplasmy level is the smallest among the reported cases of MDM3243 in the literature. 3243 mitochondrial DNA mutation is known to induce a lack of uridine-modification in tRNALeu(UUR) at the first letter of the anticodon, with which the third letter of the codon pairs, and decline of the pairing of the anticodon of tRNA with the codon of mRNA, suggesting the termination of polypeptide-elongation to generate premature proteins. Therefore, we speculate that these premature proteins may accumulate overtime, thereby affecting cells in target organs.

Original languageEnglish
Pages (from-to)225-229
Number of pages5
JournalDiabetes Research and Clinical Practice
Volume63
Issue number3
DOIs
Publication statusPublished - 2004 Mar

Keywords

  • 3243 mitochondrial DNA mutation
  • Lipoma
  • Mitochondrial diabetes
  • Oculomotor palsy

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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