Leigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tRNA isoleucine

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• 作者：Rachel Cox^a ; Julia Platt^a ; Li Chieh Chen^b ; Sha Tang^b ; Lee-Jun Wong^b ; Gregory M. Enns^a ; ^{greg.enns@stanford.edu}
• 关键词：Leigh syndrome ; tRNA isoleucine ; Mitochondrial DNA mutation ; Heteroplasmy
• 刊名：Mitochondrion
• 出版年：2012
• 期刊代码：39_15677249
• 类别：neu
• 出版时间：March, 2012
• 卷：12
• 期：2
• 页码：258-261
• 文件大小：395 K

摘要

Leigh syndrome is a severe neurodegenerative disease with heterogeneous genetic etiology. We report a novel m.4296G > A variant in the mitochondrial tRNA isoleucine gene in a child with Leigh syndrome, mitochondrial proliferation, lactic acidosis, and abnormal respiratory chain enzymology. The variant is present at > 75%heteroplasmy in blood and cultured fibroblasts from the proband, < 5%in asymptomatic maternal relatives, and is absent in 3000 controls. It is located in the highly conserved anticodon region of tRNA(Ile) where three other pathogenic changes have been described. We conclude that there is strong evidence to classify m.4296G > A as a pathogenic mutation causing Leigh syndrome.