Diagnosis and Treatment of Mitochondrial Myopathies.
Diagnosis and Treatment of Mitochondrial Myopathies.
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DOI：
10.1007/s13311-018-00674-4
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Vincent AE
中科院分区：
文献类型：
--
作者：
Ahmed ST;Craven L;Russell OM;Turnbull DM;Vincent AE
线粒体肌病是主要由线粒体中氧化磷酸化（OXPHOS）受损引起的进行性肌肉病症。这会导致三磷酸腺苷（ATP）形式的能量产生不足，特别是在骨骼肌中。线粒体肌病的诊断依赖于多种技术的组合，包括传统的组织化学，免疫组织化学和生化检测，以及快速新兴的分子遗传技术，即下一代测序（NGS）。这使得诊断在确定致病基因或新基因方面变得更加有效。然而，目前对于绝大多数患有线粒体肌病的患者没有有效的或改善疾病的治疗方法。现有的治疗方案侧重于疾病表现的对症管理。越来越多的临床试验研究了各种维生素，辅因子和小分子的治疗效果，尽管这些试验迄今未能显示出临床实践的明确结果。此外，新的分子策略，特别是mtZFN和mtTALEN，在携带不同致病性mtDNA突变的细胞系中引起有益的异质性转变，为未来带来了希望。此外，线粒体肌病患者的生殖选择方面的最新进展意味着，对于一些家庭来说，现在有可能防止突变传递给下一代。本文的在线版本（10.1007/s13311-018-00674-4）包含补充材料，可供授权用户使用。
Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a deficit in energy production in the form of adenosine triphosphate (ATP), particularly in skeletal muscle. The diagnosis of mitochondrial myopathy is reliant on the combination of numerous techniques including traditional histochemical, immunohistochemical, and biochemical testing combined with the fast-emerging molecular genetic techniques, namely next-generation sequencing (NGS). This has allowed for the diagnosis to become more effective in terms of determining causative or novel genes. However, there are currently no effective or disease-modifying treatments available for the vast majority of patients with mitochondrial myopathies. Existing therapeutic options focus on the symptomatic management of disease manifestations. An increasing number of clinical trials have investigated the therapeutic effects of various vitamins, cofactors, and small molecules, though these trials have failed to show definitive outcome measures for clinical practice thus far. In addition, new molecular strategies, specifically mtZFNs and mtTALENs, that cause beneficial heteroplasmic shifts in cell lines harboring varying pathogenic mtDNA mutations offer hope for the future. Moreover, recent developments in the reproductive options for patients with mitochondrial myopathies mean that for some families, the possibility of preventing transmission of the mutation to the next generation is now possible. The online version of this article (10.1007/s13311-018-00674-4) contains supplementary material, which is available to authorized users.
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影响因子：
11.1
作者：
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影响因子：
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