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. 2009 Jun 5;383(3):286-92.
doi: 10.1016/j.bbrc.2009.03.097. Epub 2009 Mar 24.

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

Min Liang  1 , Minqiang Guan, Fuxing Zhao, Xiangtian Zhou, Meixia Yuan, Yi Tong, Li Yang, Qi-Ping Wei, Yan-Hong Sun, Fan Lu, Jia Qu, Min-Xin Guan
Affiliations

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

Min Liang et al. Biochem Biophys Res Commun. .

Abstract

We report here the clinical, genetic and molecular characterization of four Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T3394C (Y30H) mutation, which localized at a highly conserved tyrosine at position 30 of ND1, and distinct sets of mtDNA polymorphisms belonging to haplogroups D4b and M9a. The occurrence of T3394C mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. However, there was the absence of functionally significant mtDNA mutations in these four Chinese pedigrees carrying the T3394C mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated T3394C mutation.

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Figures

Fig. 1
Fig. 1
Four Chinese pedigrees with Leber’s hereditary optic neuropathy. Vision impaired individuals are indicated by filled symbols.
Fig. 2
Fig. 2
Identification of the T3394C mutation in the ND1 gene. Partial sequences chromatograms of ND1 gene from four affected individuals and one Chinese control. An arrow indicates the location of the base changes at position 3394.
Fig. 3
Fig. 3
Alignment of partial ND1 polypeptides from different species. Arrow indicates the tyrosine at position 30 (Y30) at the N-terminal of ND1 polypeptide, corresponding to the T3394C mutation.
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