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线粒体疾病治疗选择的当前进展。

Current progress in the therapeutic options for mitochondrial disorders.

机构信息

Laboratory of Bioenergetics, Institute of Physiology Czech Acad. Sci., Prague, Czech Republic.

出版信息

Physiol Res. 2020 Dec 22;69(6):967-994. doi: 10.33549/physiolres.934529. Epub 2020 Nov 2.

Abstract

Mitochondrial disorders manifest enormous genetic and clinical heterogeneity - they can appear at any age, present with various phenotypes affecting any organ, and display any mode of inheritance. What mitochondrial diseases do have in common, is impairment of respiratory chain activity, which is responsible for more than 90% of energy production within cells. While diagnostics of mitochondrial disorders has been accelerated by introducing Next-Generation Sequencing techniques in recent years, the treatment options are still very limited. For many patients only a supportive or symptomatic therapy is available at the moment. However, decades of basic and preclinical research have uncovered potential target points and numerous compounds or interventions are now subjects of clinical trials. In this review, we focus on current and emerging therapeutic approaches towards the treatment of mitochondrial disorders. We focus on small compounds, metabolic interference, such as endurance training or ketogenic diet and also on genomic approaches.

摘要

线粒体疾病表现出巨大的遗传和临床异质性——它们可以在任何年龄出现,表现出影响任何器官的各种表型,并呈现出任何遗传方式。线粒体疾病的共同特征是呼吸链活性的损伤,而呼吸链活性负责细胞内超过 90%的能量产生。近年来,随着下一代测序技术的引入,线粒体疾病的诊断得到了加速,但治疗选择仍然非常有限。目前,许多患者只能接受支持性或对症治疗。然而,几十年来的基础和临床前研究已经揭示了潜在的靶点,许多化合物或干预措施现在都是临床试验的对象。在这篇综述中,我们专注于当前和新兴的治疗方法,以治疗线粒体疾病。我们专注于小分子、代谢干扰,如耐力训练或生酮饮食,以及基因组方法。

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本文引用的文献

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Adapting CRISPR/Cas9 System for Targeting Mitochondrial Genome.改造CRISPR/Cas9系统以靶向线粒体基因组。
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