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

Mol Aspects Med. 1997:18 Suppl:S181-8. doi: 10.1016/s0098-2997(97)00041-1.

Abstract

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 abnormalities 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 Q may be effective in the relief of these neuromuscular symptoms.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Clinical Trials as Topic
  • Coenzymes
  • DNA, Mitochondrial / genetics*
  • Depression / diagnosis
  • Diabetes Mellitus / classification
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / psychology
  • Diabetes Mellitus, Type 2 / diagnosis
  • Diabetes Mellitus, Type 2 / genetics
  • Diagnosis, Differential
  • Edema / etiology
  • Female
  • Humans
  • Insulin / adverse effects
  • Insulin / therapeutic use
  • Male
  • Middle Aged
  • Mitochondrial Encephalomyopathies / drug therapy
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / psychology
  • Peripheral Nervous System Diseases / etiology
  • Point Mutation*
  • Psychotic Disorders / diagnosis
  • Psychotic Disorders / etiology
  • RNA, Transfer, Leu / genetics*
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / therapeutic use

Substances

  • Coenzymes
  • DNA, Mitochondrial
  • Insulin
  • RNA, Transfer, Leu
  • Ubiquinone
  • coenzyme Q10