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A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

2002; Elsevier BV; Volume: 12; Issue: 1 Linguagem: Inglês

10.1016/s0960-8966(01)00242-5

1873-2364

Motohiro Akagi, Koji Inui, Hiroko Tsukamoto, Norio Sakai, Takashi Muramatsu, Minoru Yamada, Kouzi Matsuzaki, Yu‐ichi Goto, Ikuya Nonaka, Shintaro Okada,

ATP Synthase and ATPases Research

A T-to-G transition at nucleotide 9176 (T9176G) in the mitochondrial adenosine triphosphate 6 gene (MTATP6) was detected in two siblings with Leigh syndrome. Heteroplasmy was observed in the mother's leukocytes. The T9176G mutation changes a highly conserved leucine residue to an arginine in subunit 6 of ATPase and is maternally inherited like mutations in the other mitochondrial genes. Another mutation in the same codon (T9176C) has been previously reported in Leigh syndrome. This gives strong support to the relevance of MTATP6 dysfunction in Leigh syndrome and the importance of leucine at that position.