A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

Neuromuscul Disord. 2002 Jan;12(1):53-5. doi: 10.1016/s0960-8966(01)00242-5.


A T-to-G transition at nucleotide 9176 (T9176G) in the mitochondrial adenosine triphosphate 6 gene (MTATP6) was detected in two siblings with Leigh syndrome. Heteroplasmy was observed in the mother's leukocytes. The T9176G mutation changes a highly conserved leucine residue to an arginine in subunit 6 of ATPase and is maternally inherited like mutations in the other mitochondrial genes. Another mutation in the same codon (T9176C) has been previously reported in Leigh syndrome. This gives strong support to the relevance of MTATP6 dysfunction in Leigh syndrome and the importance of leucine at that position.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Leigh Disease / genetics*
  • Leigh Disease / metabolism
  • Male
  • Mitochondria / enzymology
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Pedigree
  • Point Mutation*


  • ATP synthase subunit 6
  • Mitochondrial Proton-Translocating ATPases