Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene

被引:45
作者
Campos, Y
García-Redondo, A
Fernández-Moreno, MA
Martínez-Pardo, M
Goda, G
Rubio, JC
Martín, MA
del Hoyo, P
Cabello, A
Bornstein, B
Garesse, R
Arenas, J
机构
[1] Univ Hosp, Ctr Invest, Madrid, Spain
[2] Univ Hosp, Dept Neuropatol, Madrid, Spain
[3] UAM, CSIC, Inst Invest Biomed Alberto Sols, Madrid, Spain
[4] Hosp Univ Ramon y Cajal, Dept Pediat, Madrid, Spain
关键词
D O I
10.1002/ana.1141
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit Il of cytochrome c oxidase (COX in a patient with early-onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.
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收藏
页码:409 / 413
页数:5
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