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Leber遗传性视神经病变的线粒体遗传学与治疗概述

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.

作者信息

Manickam Agaath Hedina, Michael Minu Jenifer, Ramasamy Sivasamy

机构信息

Molecular Genetics and Cancer Biology Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tami Nadu, India.

Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tami Nadu, India.

出版信息

Indian J Ophthalmol. 2017 Nov;65(11):1087-1092. doi: 10.4103/ijo.IJO_358_17.

Abstract

Leber's hereditary optic neuropathy (LHON) is a common inherited mitochondrial disorder that is characterized by the degeneration of the optic nerves, leading to vision loss. The major mutations in the mitochondrial genes ND1, ND4, and ND6 of LHON subjects are found to increase the oxidative stress experienced by the optic nerve cell, thereby leading to nerve cell damage. Accurate treatments are not available and drugs that are commercially available like Idebenone, EPI-743, and Bendavia with their antioxidant role help in reducing the oxidative stress experienced by the cell thereby preventing the progression of the disease. Genetic counseling plays an effective role in making the family members aware of the inheritance pattern of the disease. Gene therapy is an alternative for curing the disease but is still under study. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics and therapeutics of LHON has been developed with obtained articles from 1988 to 2017.

摘要

莱伯遗传性视神经病变(LHON)是一种常见的遗传性线粒体疾病,其特征是视神经退化,导致视力丧失。研究发现,LHON患者线粒体基因ND1、ND4和ND6中的主要突变会增加视神经细胞所经历的氧化应激,从而导致神经细胞损伤。目前尚无确切的治疗方法,而像艾地苯醌、EPI - 743和苯达维这样具有抗氧化作用的市售药物有助于减轻细胞所经历的氧化应激,从而防止疾病进展。遗传咨询在使家庭成员了解疾病的遗传模式方面发挥着有效作用。基因治疗是治愈该疾病的一种替代方法,但仍在研究中。本综述重点关注线粒体基因在引发LHON中的作用以及可用于治疗该疾病的疗法。我们在多个数据库中采用了系统检索,使用关键词“LHON”“线粒体”“ND1”“ND4”“ND6”和“疗法”,并根据1988年至2017年获取的文章编写了以下关于LHON线粒体遗传学和疗法的综述。

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