Ritoprova Sen, Cuckoo Teresa Jetto, Ravi Manjithaya
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引用次数: 0
Abstract
Mitochondrial DNA depletion syndromes (MDS) encompass a wide spectrum of rare genetic disorders caused by severe reduction in mitochondrial DNA (mtDNA), and exhibit heterogenous phenotypes classified as myopathic, encephalomyopathic, hepatocerebral, and neurogastrointestinal. Prognosis for such a spectrum of diseases is poor and is majorly dependent on symptomatic treatment and nutritional supplementation. Understanding the mechanistic aspect of mtDNA depletion can help bring forth a new era of medicine, moving beyond symptomatic treatment and focusing more on organelle-targeted therapies. In this review, we highlight some of the proposed mechanistic bases of mtDNA depletion and the latest therapeutic measures used to treat MDS.
线粒体 DNA 缺失综合征（MDS）是由线粒体 DNA（mtDNA）严重减少引起的一种广泛的罕见遗传性疾病，表现为肌病、脑肌病、肝脑病和神经胃肠病等多种表型。这类疾病的预后很差，主要依赖对症治疗和营养补充。了解mtDNA耗竭的机理有助于开创医学新纪元，超越对症治疗，更加关注细胞器靶向疗法。在这篇综述中，我们将重点介绍mtDNA耗竭的一些机理基础以及用于治疗MDS的最新疗法。
期刊介绍：
The Journal of Biosciences is a quarterly journal published by the Indian Academy of Sciences, Bangalore. It covers all areas of Biology and is the premier journal in the country within its scope. It is indexed in Current Contents and other standard Biological and Medical databases. The Journal of Biosciences began in 1934 as the Proceedings of the Indian Academy of Sciences (Section B). This continued until 1978 when it was split into three parts : Proceedings-Animal Sciences, Proceedings-Plant Sciences and Proceedings-Experimental Biology. Proceedings-Experimental Biology was renamed Journal of Biosciences in 1979; and in 1991, Proceedings-Animal Sciences and Proceedings-Plant Sciences merged with it.
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