Research progress of risk factors of Leber’s hereditary optic neuropathy
10.3760/cma.j.cn511434-20220829-00480
- VernacularTitle:Leber遗传性视神经病变中风险因素的研究进展
- Author:
Yinglong GAO
1
;
Jialing YU
Author Information
1. 浙江大学医学院附属儿童医院小儿外科, 杭州 310052
- Keywords:
Leber’s hereditary optic neuropathy;
Mitochondria;
Secondary mitochondrial mutation;
Mitochondrial haploid type;
Nuclear modifier gene;
Environmental facto
- From:
Chinese Journal of Ocular Fundus Diseases
2023;39(7):600-604
- CountryChina
- Language:Chinese
-
Abstract:
Leber’s hereditary optic neuropathy (LHON) is a paradigm maternal hereditary eye disease, mainly involving the retinal and macular fibers of the optic disc in the anterior ethmoid plate of the sclera. LHON has the characteristics of sex bias among males and incomplete penetrance. Primary mitochondrial DNA mutations m.11778G>A, m. 14484T>C, m.3460G>A are the molecular basis of LHON. However, other risk factors, such as secondary mitochondrial DNA mutations, mitochondrial haplotypes, nuclear modification genes, estrogen, vitamin B12 and environmental factors, work together to affect its phenotypic expression. The clinical diagnosis of LHON mainly limited to the detection of the primary mutation site of mitochondrial DNA. Therefore, comprehensive analysis of multiple risk factors of LHON will facilitate to construct multi-dimensional model of prevention, diagnosis and treatment system, which provide accurate and individualized medical services for patients. These may alleviate the incidence in LHON families. It also provides new ideas and different angles for the in-depth study of the pathogenesis of LHON.
