Journal
MITOCHONDRION
Volume 12, Issue 2, Pages 258-261Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2011.09.006
Keywords
Leigh syndrome; tRNA isoleucine; Mitochondrial DNA mutation; Heteroplasmy
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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. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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