Diabetes mellitus associated with 3243 mitochondrial tRNA (Leu(UUR)) mutation: Clinical features and coenzyme Q10 treatment

Y. Suzuki, M. Taniyama, T. Muramatsu, Y. Atsumi, K. Hosokawa, T. Asahina, A. Shimada, C. Murata, K. Matsuoka

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33 Citations (Scopus)


Diabetes mellitus associated with mitochondrial tRNA mutation at position 3243(DM-Mt3243) is a new disease. Patients have a distinctly different picture from MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). During observations at the Saiseikai Central Hospital, the following findings were noted in DM-Mt3243 patients: DM-Mt3243 patients are diagnosed earlier with diabetes, compared to NIDDM (non-insulin dependent diabetes mellitus) controls without family history. DM-Mt3243 patients often need insulin more often than NIDDM controls without family history. Post-treatment neuropathy and insulin edema are often found in DM-Mt3243, and the two phenomena possibly have a similar pathophysiology related to mitochondrial dysfunction. Ambiguous psychiatric disorders of functional psychosis are observed frequently in DM-Mt3243. Mild headache is common in DM-Mt3243 cases. Ambiguous neuromuscular abnormaltiies such as sleep disturbance, paresthesia of the legs, edema of the legs, and palpitation may be symptoms associated with mitochondrial dysfunction in DM-Mt3243. Coenzyme a maybe effective in the relief of these neuromuscular symptoms.

Original languageEnglish
Pages (from-to)181-188
Number of pages8
JournalMolecular Aspects of Medicine
Issue numberSUPPL.
Publication statusPublished - 1997
Externally publishedYes


  • ALDH2
  • Coenzyme Q
  • Mitochondrial DNA mutation at position 3243
  • Mitochondrial diabetes mellitus

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Clinical Biochemistry


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