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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Akira Sudo1,2, Shiho Honzawa1,3, Ikuya Nonaka2

  • 1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan.

Journal of Human Genetics
|January 20, 2004
PubMed

Insights

The G13513A mitochondrial DNA mutation is a frequent cause of Leigh syndrome (LS), occurring in 7% of patients. Patients often exhibit cardiac conduction abnormalities, including Wolff-Parkinson-White syndrome.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Neurology

Background:

  • The G13513A mutation in mitochondrial DNA (mtDNA) is linked to mitochondrial myopathy.
  • Its prevalence and clinical characteristics in Leigh syndrome (LS) remain undetermined.

Purpose of the Study:

  • To determine the prevalence of the G13513A mutation in Leigh syndrome patients.
  • To characterize the clinical features associated with this mutation in LS.

Main Methods:

  • Screening of 84 Leigh syndrome patients for the G13513A mtDNA mutation.
  • Analysis of mutant mtDNA proportions in muscle tissue.
  • Clinical evaluation of patients, focusing on symptom onset and cardiac abnormalities.

Main Results:

  • The G13513A mutation was identified in 6 out of 84 (7%) LS patients.
  • Mutant mtDNA proportions in muscles ranged from 42% to 70%.
  • Five patients presented with cardiac conduction abnormalities, including three with Wolff-Parkinson-White syndrome.

Conclusions:

  • The G13513A mutation is a significant cause of Leigh syndrome.
  • Patients with this mutation may exhibit a distinct clinical profile, particularly cardiac involvement.

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