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Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation |
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| Authors: | Juhua Yang Yihua Zhu Yi Tong Lijuan Liu Xiaoyan Wang Wentong Qiu Xu Ma |
| Affiliation: | a Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China b Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, Beijing 100081, China c Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China d Fuzhou Southeast Eye Hospital, Fuzhou, Fujian, China e Postgraduate School of Education, Fujian Medical University, Fuzhou, Fujian, China f Department of Ophthalmology, Nanjing County Hospital, Zhangzhou, Fujian, China |
| Abstract: | We report the clinical and genetic characterization of two Chinese LHON families who do not carry the primary LHON-mutations. Mitochondrial genome sequence analysis revealed the presence of a homoplasmic ND1 G3635A mutation in both families. In Family LHON-001, 31 other variants belonging to the East Asian haplogroup R11a were identified and in Family LHON-019, 37 other variants belonging to the East Asian haplogroup D4g were determined. The ND1 G3635A mutation changes the conversed serine110 residue to asparagine. This mutation has been previously described in a single Russian LHON family and has been suggested to contribute to increased LHON expressivity. In addition, a mutation in cytochrome c oxidase subunit II at C7868T (COII/L95F) may act in synergy with G3635A, increasing LHON expressivity in Family LHON-001, which had a higher level of LHON penetrance than Family LHON-019. In summary, the G3635A mutation is confirmed as a rare primary pathogenic mutation for LHON. |
| Keywords: | LHON, leber&rsquo s hereditary optic neuropathy mtDNA, mitochondrial DNA MAS-PCR, multiplex allele-specific polymerase chain reaction nps, nucleotide positions |
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