A novel mtDNA C11777A mutation in Leigh syndrome

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

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)293-304
Number of pages12
JournalMitochondrion
Volume2
Issue number4
DOIs
Publication statusPublished - 2003 Mar

Fingerprint

Leigh Disease
Mitochondrial DNA
Mutation
Leber's Hereditary Optic Atrophy
Nucleotides
Codon
Point Mutation
Serine
Arginine
Amino Acids
Genes

Keywords

  • ATP production
  • Complex I deficiency
  • Cybrid
  • Heteroplasmy
  • Mitochondrial disease

ASJC Scopus subject areas

  • Biophysics

Cite this

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

A novel mtDNA C11777A mutation in Leigh syndrome. / Komaki, Hirofumi; Akanuma, Jun; Iwata, Hideki; Takahashi, Takao; Mashima, Yukihiko; Nonaka, Ikuya; Goto, Yu Ichi.

In: Mitochondrion, Vol. 2, No. 4, 03.2003, p. 293-304.

Research output: Contribution to journalArticle

Komaki, H, Akanuma, J, Iwata, H, Takahashi, T, Mashima, Y, Nonaka, I & Goto, YI 2003, 'A novel mtDNA C11777A mutation in Leigh syndrome', Mitochondrion, vol. 2, no. 4, pp. 293-304. https://doi.org/10.1016/S1567-7249(03)00003-5
Komaki H, Akanuma J, Iwata H, Takahashi T, Mashima Y, Nonaka I et al. A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion. 2003 Mar;2(4):293-304. https://doi.org/10.1016/S1567-7249(03)00003-5
Komaki, Hirofumi ; Akanuma, Jun ; Iwata, Hideki ; Takahashi, Takao ; Mashima, Yukihiko ; Nonaka, Ikuya ; Goto, Yu Ichi. / A novel mtDNA C11777A mutation in Leigh syndrome. In: Mitochondrion. 2003 ; Vol. 2, No. 4. pp. 293-304.
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