Mitochondrial variants may influence the phenotypic manifestation of Leber＇ s hereditary optic neuropathy-associated ND4 G 11778A mutation

We report here the characterization of a five-generation Han Chinese family with Leber＇s hereditary optic neuropathy （LHON）. Strik- ingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen （11...

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Bibliographic Details
Published in:Journal of genetics and genomics 2008, Vol.35 (11), p.649-655
Main Author: Wanshi Cai Qun Fu Xiangtian Zhou Jia Qu Yi Tong Min-Xin Guan
Format: Article
Language:Chinese
Subjects:
伯氏遗传性视神经
基因
病变
线粒体
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Summary:We report here the characterization of a five-generation Han Chinese family with Leber＇s hereditary optic neuropathy （LHON）. Strik- ingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen （11 males/8 females） of 29 matrilineal relatives in this family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of mitochondrial genome in this pedigree revealed the presence of the ND4 G 11778A mutation and 44 other variants belonging to Asian haplogroup M7b. The G 11778A mutation is present at homoplasmy in matri- lineal relatives of this Chinese family. Of other variants, the C01 G6480A, ND5 T12811C and Cytb A15395G located at highly conserved residues of corresponding polypeptides. In fact, these variants were implicated to be involved in other clinical abnormalities. Here, these variants may act in synergy with the primary LHON-associated Gl1778A muta
ISSN:1673-8527