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

38 引用 (Scopus)

抜粋

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.

元の言語English
ページ(範囲)293-304
ページ数12
ジャーナルMitochondrion
2
発行部数4
DOI
出版物ステータスPublished - 2003 3 1

    フィンガープリント

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology

これを引用

Komaki, H., Akanuma, J., Iwata, H., Takahashi, T., Mashima, Y., Nonaka, I., & Goto, Y. I. (2003). A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion, 2(4), 293-304. https://doi.org/10.1016/S1567-7249(03)00003-5