线粒体 DNA 疾病——分子见解与潜在治疗途径。
Mitochondrial DNA disease-molecular insights and potential routes to a cure.
机构信息
Newcastle University Centre for Brain Ageing and Vitality and Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
Newcastle University Centre for Brain Ageing and Vitality and Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
出版信息
Exp Cell Res. 2014 Jul 1;325(1):38-43. doi: 10.1016/j.yexcr.2014.03.012. Epub 2014 Mar 24.
Mitochondrial DNA diseases are common neurological conditions caused by mutations in the mitochondrial genome or nuclear genes responsible for its maintenance. Current treatments for these disorders are focussed on the management of the symptoms, rather than the correction of biochemical defects caused by the mutation. This review focuses on the molecular effects of mutations, the symptoms they cause and current work focusing on the development of targeted treatments for mitochondrial DNA disease.
线粒体 DNA 疾病是由线粒体基因组或负责其维持的核基因突变引起的常见神经疾病。目前这些疾病的治疗方法主要集中在症状的管理上，而不是纠正突变引起的生化缺陷。这篇综述主要关注突变的分子效应、它们引起的症状以及目前针对线粒体 DNA 疾病的靶向治疗方法的开发工作。
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