Next-generation sequencing for mitochondrial disorders

被引：46

作者：

Carroll, C. J. ^{[1
]}

Brilhante, V. ^{[1
]}

Suomalainen, A. ^{[1
]}

机构：

[1] Univ Helsinki, Res Programs Unit, Biomedicum Helsinki, Helsinki, Finland

来源：

BRITISH JOURNAL OF PHARMACOLOGY | 2014年 / 171卷 / 08期

基金：

欧洲研究理事会; 芬兰科学院;

关键词：

mitochondria; mitochondrial disease; next-generation sequencing; exome; diagnosis; TRANSFER-RNA SYNTHETASE; RESPIRATORY-CHAIN DISORDERS; COPY-NUMBER VARIATION; HOMOZYGOUS MUTATION; RECESSIVE MUTATIONS; OPTIC ATROPHY; EXOME CAPTURE; HEARING-LOSS; DNA; DISEASE;

D O I：

10.1111/bph.12469

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

A great deal of our understanding of mitochondrial function has come from studies of inherited mitochondrial diseases, but still majority of the patients lack molecular diagnosis. Furthermore, effective treatments for mitochondrial disorders do not exist. Development of therapies has been complicated by the fact that the diseases are extremely heterogeneous, and collecting large enough cohorts of similarly affected individuals to assess new therapies properly has been difficult. Next-generation sequencing technologies have in the last few years been shown to be an effective method for the genetic diagnosis of inherited mitochondrial diseases. Here we review the strategies and findings from studies applying next-generation sequencing methods for the genetic diagnosis of mitochondrial disorders. Detailed knowledge of molecular causes also enables collection of homogenous cohorts of patients for therapy trials, and therefore boosts development of intervention. Linked ArticlesThis article is part of a themed issue on Mitochondrial Pharmacology: Energy, Injury & Beyond. To view the other articles in this issue visit

引用

页码：1837 / 1853

页数：17

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