A novel mtDNA C11777A mutation in Leigh syndrome

Hirofumi Komaki, Jun Akanuma, Hideki Iwata, Takao Takahashi, Yukihiko Mashima, Ikuya Nonaka, Yu Ichi Goto

研究成果: Article査読

42 被引用数 (Scopus)

抄録

A novel mitochondrial DNA point mutation, a C-to-A mutation at nucleotide position (np) 11,777, was identified in two unrelated patients out of 100 with Leigh syndrome. This mutation converted a highly evolutionary conserved arginine to a serine at codon 340 in ND4 gene. This codon was also converted by a G-to-A mutation at np 11,778, the most common mutation associated with Leber's hereditary optic neuropathy (LHON), but the amino acid replacement was different (R340S vs. R340H). Cybrid study revealed that the percentage of heteroplasmy was correlated with complex I function and that the novel mutation caused a much more deleterious effect than the np 11,778 LHON mutation in complex I activity.

本文言語English
ページ(範囲)293-304
ページ数12
ジャーナルMitochondrion
2
4
DOI
出版ステータスPublished - 2003 3

ASJC Scopus subject areas

  • 分子医療
  • 分子生物学
  • 細胞生物学

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