对于Leber遗传性视神经病变有治疗方法吗？
Is there treatment for Leber hereditary optic neuropathy?
作者信息
Peragallo Jason H, Newman Nancy J
机构信息
aDepartment of Ophthalmology bDepartment of Pediatrics cDepartment of Neurology dDepartment of Neurological Surgery, Emory University, Atlanta, Georgia, USA.
出版信息
Curr Opin Ophthalmol. 2015 Nov;26(6):450-7. doi: 10.1097/ICU.0000000000000212.
PURPOSE OF REVIEW
To discuss recent advances in potential treatments for Leber hereditary optic neuropathy (LHON), a typically visually devastating hereditary optic neuropathy caused by mutations in the mitochondrial genome.
RECENT FINDINGS
Idebenone has been proposed as a means of bypassing defective complex I activity and a free radical scavenger to prevent oxidative damage. EPI-743 may have more potency than idebenone, but no clinical trials have been performed. Gene therapy techniques have advanced significantly, including allotopic expression and nuclear transfer. Successful rescue of animal models of LHON with both of these therapies has been demonstrated. Introduction of exogenous DNA into the mitochondrial genome with mitochondrial targeting of viral vectors is another promising technique.
SUMMARY
There are currently no proven treatments for LHON. However, there are many promising novel treatment modalities that are currently being evaluated, with several clinical trials underway or in the planning stages. Supportive measures and genetic counseling remain of great importance for these patients.
综述目的
探讨治疗Leber遗传性视神经病变（LHON）潜在疗法的最新进展。LHON是一种典型的致盲性遗传性视神经病变，由线粒体基因组突变引起。
最新发现
艾地苯醌被提议作为一种绕过缺陷复合体I活性的手段以及一种自由基清除剂，以防止氧化损伤。EPI - 743可能比艾地苯醌更有效，但尚未进行临床试验。基因治疗技术有了显著进展，包括异位表达和核移植。已证明这两种疗法均可成功挽救LHON动物模型。通过病毒载体的线粒体靶向将外源DNA导入线粒体基因组是另一种有前景的技术。
总结
目前尚无经证实的LHON治疗方法。然而，目前有许多有前景的新型治疗方式正在评估中，有多项临床试验正在进行或处于规划阶段。支持性措施和遗传咨询对这些患者仍然非常重要。
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