TY - JOUR
T1 - A novel mtDNA C11777A mutation in Leigh syndrome
AU - Komaki, Hirofumi
AU - Akanuma, Jun
AU - Iwata, Hideki
AU - Takahashi, Takao
AU - Mashima, Yukihiko
AU - Nonaka, Ikuya
AU - Goto, Yu Ichi
N1 - Funding Information:
We thank Dr Kohji Tomita for providing us with the clinical information. This study was supported in part by Health Sciences Research Grants for the Research on Brain Science (Y.G., I.N.) and Research Grants for Psychiatric and Neurological Diseases (Y.G.) from the Ministry of Health, Labor and Welfare, Japan.
PY - 2003/3
Y1 - 2003/3
N2 - 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.
AB - 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.
KW - ATP production
KW - Complex I deficiency
KW - Cybrid
KW - Heteroplasmy
KW - Mitochondrial disease
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U2 - 10.1016/S1567-7249(03)00003-5
DO - 10.1016/S1567-7249(03)00003-5
M3 - Article
C2 - 16120329
AN - SCOPUS:0037347397
SN - 1567-7249
VL - 2
SP - 293
EP - 304
JO - Mitochondrion
JF - Mitochondrion
IS - 4
ER -