Article Text

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Atypical early onset of diabetes, deafness and lung cancer in a male patient with mitochondrial mutations in peripheral mononuclear cells
  1. Satoru Suzuki1,
  2. Masahiro Takei1,
  3. Takashi Ehara2,
  4. Shin-ichi Nishio1,
  5. Hidefumi Inaba1,
  6. Kiyoshi Hashizume1
  1. 1
    Shinshu University, Graduate School of Medicine, Department of Aging Medicine and Geriatrics, 3-1-1, Asahi, Matsumoto, 3908621, Japan
  2. 2
    Shinshu University School of Medicine, Department of Pathology, 3-1-1, Asahi, Matsumoto, 3908621, Japan
  1. Satoru Suzuki, suzukis{at}


As mitochondria play a major role in the conversion of dietary calories into usable energy, generating reactive oxygen species as a toxic byproduct, mitochondrial dysfunction plays a role in a wide range of age-related disorders and various forms of cancer. The present report concerns a heavy smoker who died of lung cancer at age 40. He also developed progressive diabetes and sensory hearing loss. Mitochondrial DNA sequence analysis revealed four mutations in peripheral mononuclear cells. Three were novel point mutations, including a mutation in ATP synthase F0 subunit 6 (ATP6). Mitochondrial mutations and smoking may have contributed to the development of atypical early onset of senescence-related diseases in this case.

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  • Competing interests: None.

  • Patient consent: Patient/guardian consent was obtained for publication.

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