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

R. Carrozzo, A. Tessa, M. E. Vázquez-Memije, F. Piemonte, C. Patrono, A. Malandrini, C. Dionisi-Vici, L. Vilarinho, M. Villanova, H. Schägger, A. Federico, E. Bertini, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

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 front the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS.

Original languageEnglish
Pages (from-to)687-690
Number of pages4
JournalNeurology
Volume56
Issue number5
Publication statusPublished - Mar 13 2001

ASJC Scopus subject areas

  • Neuroscience(all)

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