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Neurology 2001;56:687-690
© 2001 American Academy of Neurology
Brief Communications

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

R. Carrozzo, PhD;, A. Tessa, PhD;, M.E. Vázquez–Memije, PhD;, F. Piemonte, PhD;, C. Patrono, PhD;, A. Malandrini, MD;, C. Dionisi–Vici, MD;, L. Vilarinho, PhD;, M. Villanova, MD, PhD;, H. Schägger, PhD;, A. Federico, MD;, E. Bertini, MD; and F.M. Santorelli, MD

From Molecular Medicine (Drs. Carrozzo, Tessa, Piemonte, Patrono, Dionisi–Vici, Bertini, and Santorelli), Department of Neurosciences, IRCCS–Ospedale "Bambino Gesù", Rome, Italy; Unidad de Investigacion Medica en Genetica (Dr. Vázquez–Memije), Centro Medico Nacional, Mexico City, Mexico; Neurological Institute (Drs. Malandrini and Federico), University of Siena, Italy; Institute of Medical Genetics "J. de Magalhaes" (Dr. Vilarinho), Porto, Portugal; Neuromuscular Unit (Dr. Villanova), IRCCS–Istituto Ortopedico Rizzoli, Bologna, Italy; and Biochemie I (Dr. Schägger), Zentrum der Biologischen Chemie, Universitaetsklinikum, Frankfurt, Germany.

Address correspondence and reprint requests to Dr. Filippo M. Santorelli, Molecular Medicine, IRCCS–"Bambino Gesù", Piazza S. Onofrio 4, 00165 Rome, Italy; e-mail: fms3{at}na.flashnet.it

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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