OPA基因突变相关遗传性视神经病变的研究进展
Research progress of hereditary optic neuropathy associated with OPA gene mutations
金淼 1姜利斌1
作者信息
- 1. 首都医科大学附属北京同仁医院北京同仁眼科中心,北京 100730
- 折叠
摘要
遗传性视神经萎缩(OPA)的基因突变会导致一种相似的表型,即视神经萎缩,可以表现为孤立的视神经萎缩,也可能伴随其他全身性的症状,这些症状多与神经系统相关.目前共发现13种OPA基因,涵盖了多种遗传模式,包括染色体显性遗传、常染色体隐性遗传以及X连锁遗传.通过对患者进行基因检测和分析,能够准确判断其是否携带与视神经萎缩相关的突变基因,并据此预测疾病的进展和可能出现的并发症.这不仅为患者及家庭提供了宝贵的遗传咨询和生育规划指导,还有助于更好地理解该疾病,发现新的治疗靶点,为未来开发出更精准、更有效的药物或基因疗法奠定基础.
Abstract
Mutations in optic atrophy(OPA)genes can lead to a similar phenotype,namely optic atrophy,which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms,mostly related to the nervous system.Currently,a total of 13 OPA genes have been discovered,covering a variety of inheritance patterns,including chromosomal dominant inheritance,autosomal recessive inheritance,and X-linked inheritance.Through genetic testing and analysis of patients,it is possible to accurately determine whether they carry mutation genes related to optic atrophy,and predict the progression of the disease and potential complications accordingly.This not only provides valuable genetic counseling and fertility planning guidance for patients and their families,but also helps better understand the disease,discover new therapeutic targets,and lay the foundation for developing more precise and effective drugs or gene therapies in the future.
关键词
核基因/遗传性视神经病变/视神经萎缩/OPA基因突变/综述Key words
Nuclear gene/Hereditary optic neuropathy/Optic atrophy/OPA gene mutation/Review引用本文复制引用
出版年
2024
NETL
NSTL
万方数据