The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687.


The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh syndrome (LS), and a maternal uncle had a spinocerebellar disorder. Biochemical studies disclosed a reduced rate of ATP synthesis in skin fibroblast cultures from the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / biosynthesis*
  • Child
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Female
  • Humans
  • Leigh Disease / etiology*
  • Leigh Disease / genetics*
  • Mutation / genetics*
  • Pedigree


  • DNA, Mitochondrial
  • Adenosine Triphosphate