Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Curr Opin Pediatr. 2010 Dec;22(6):711-6. doi: 10.1097/MOP.0b013e3283402e21.
Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion. Great strides have been made in determining the cause of mitochondrial disorders, but the clinical ability to diagnose these conditions lags behind because of phenotypic overlap between distinct genetic entities and the complexity and invasiveness of standard diagnostic testing. In this review, we evaluate new findings in mitochondrial genetics, recent developments in mitochondrial disease diagnostic testing, and emerging ideas for mitochondrial disease therapies.
Clinical cohort studies have revealed important themes in patient care relative to manifestations of mitochondrial disease. Significant strides have also been made toward creating embryos free from the risk of maternally inherited mitochondrial DNA-based disease. Several new genetic causes of both nuclear and mitochondrial DNA-based diseases have been identified in the past year. In addition, novel insights have emerged from basic studies of mitochondrial biology that hold promise for the development of targeted mitochondrial disease therapies.
Research on mitochondrial biology and disease continues to improve the clinical capacity to diagnose the heterogeneous group of mitochondrial diseases that afflict the pediatric population. This research also provides a framework for future approaches to devise effective mitochondrial disease therapies.
线粒体疾病虽然单独发生的情况不常见，但总体上对人类健康造成了重大负担。原发性线粒体疾病是由线粒体 DNA 编码基因或核基因的缺陷引起的，这些基因的产物被导入线粒体。在确定线粒体疾病的病因方面已经取得了很大的进展，但由于不同遗传实体之间的表型重叠以及标准诊断测试的复杂性和侵入性，临床诊断这些疾病的能力仍然滞后。在这篇综述中，我们评估了线粒体遗传学的新发现、线粒体疾病诊断测试的最新进展以及线粒体疾病治疗的新想法。
临床队列研究揭示了与线粒体疾病表现相关的患者护理中的重要主题。在创建无母体遗传线粒体 DNA 疾病风险的胚胎方面也取得了重大进展。在过去的一年中，已经确定了几种新的核和线粒体 DNA 疾病的遗传原因。此外，从线粒体生物学的基础研究中也出现了新的见解，为开发针对线粒体疾病的靶向治疗方法提供了希望。
线粒体生物学和疾病的研究不断提高诊断儿科人群中各种线粒体疾病的临床能力。这项研究还为未来设计有效的线粒体疾病治疗方法提供了框架。
