The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome |
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| Authors: | Carrozzo R Tessa A Vázquez-Memije M E Piemonte F Patrono C Malandrini A Dionisi-Vici C Vilarinho L Villanova M Schägger H Federico A Bertini E Santorelli F M |
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| Affiliation: | Molecular Medicine, Department of Neurosciences, IRCCS-Ospedale Bambino Gesù, Rome, Italy. |
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| 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 from the proposita as the likely explanation of her severe illness. The findings expand the genetic variants associated with LS. |
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