A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial DNA polymorphisms

Tohoku J Exp Med. 2002 Mar;196(3):203-11. doi: 10.1620/tjem.196.203.


We describe a case of diabetes mellitus complicated by neurosensory hearing loss, cardiomyopathy, and sleep apnea syndrome. A 48-year-old man who was admitted for treatment of a lacerated tendon of the right shoulder was also found to require preoperative control of diabetes, a condition that had been diagnosed 4 years earlier. The family pedigree suggested maternal inheritance of diabetes. The patient also had neurosensory hearing loss and the central type of sleep apnea syndrome. His myocardium was hypertrophic and the ultrastructural analysis showed morphologically abnormal mitochondria. On the basis of the apparent characteristic manifestations, we speculated that he had a mitochondrial disease. To elucidate the responsible mutation of mitochondrial DNA, we sequenced the patient's entire mitochondrial DNA derived from blood leukocytes and found 40 sequence variants. Three of those, 5466 A/G, 7912 G/A, and 10601 T/C, have not yet been reported. Nine of the 40 variants were accompanied by an amino acid replacement, including 5466 A/G. Although we could not determine the most significant mutation, the variants of mitochondrial DNA may have been associated with this patient's unusually variable clinical manifestations.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies / complications
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • DNA, Mitochondrial / genetics*
  • Diabetes Complications
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / pathology
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / ultrastructure
  • Myocardium / pathology
  • Pedigree
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Sleep Apnea, Central / complications
  • Sleep Apnea, Central / genetics*
  • Sleep Apnea, Central / pathology


  • DNA, Mitochondrial