Mitochondrial Diseases: A Diagnostic Revolution

被引：78

作者：

Schon, Katherine R. ^{[1
,2
]}

Ratnaike, Thiloka ^{[1
,2
,3
]}

van den Ameele, Jelle ^{[1
,2
]}

Horvath, Rita ^{[1
]}

Chinnery, Patrick F. ^{[1
,2
]}

机构：

[1] Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England

[2] Univ Cambridge, Med Res Council MRC, Mitochondrial Biol Unit, Cambridge Biomed Campus, Cambridge, England

[3] Univ Cambridge, Sch Clin Med, Dept Paediat, Cambridge Biomed Campus, Cambridge, England

来源：

TRENDS IN GENETICS | 2020年 / 36卷 / 09期

基金：

欧洲研究理事会; 英国惠康基金; 英国医学研究理事会;

关键词：

RECURRENT DE-NOVO; RESPIRATORY-CHAIN DISORDERS; HEREDITARY OPTIC NEUROPATHY; HUMAN PHENOTYPE ONTOLOGY; MEMBRANE PROTEIN; RARE DISEASE; DNA; MUTATIONS; GENE; OPHTHALMOPLEGIA;

D O I：

10.1016/j.tig.2020.06.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：702 / 717

页数：16

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