Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Medical Research Council (MRC) Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Medical Research Council (MRC) Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Department of Paediatrics, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Trends Genet. 2020 Sep;36(9):702-717. doi: 10.1016/j.tig.2020.06.009. Epub 2020 Jul 13.
Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing approaches, particularly whole-genome sequencing (WGS), have dramatically changed the landscape. The combined analysis of nuclear and mitochondrial DNA (mtDNA) allows rapid diagnosis for the vast majority of patients, but new challenges have emerged. We review recent discoveries that will benefit patients and families, and highlight emerging questions that remain to be resolved.
线粒体疾病已成为遗传性疾病的常见病因，但传统上被认为在临床上难以诊断，在分子水平上更难以全面描述。然而，新的测序方法，特别是全基因组测序（WGS），极大地改变了这种局面。核 DNA 和线粒体 DNA（mtDNA）的联合分析可使绝大多数患者快速得到诊断，但新的挑战也随之出现。我们回顾了最近的发现，这些发现将使患者和家属受益，并强调了仍有待解决的新问题。
