Mitochondrial Diseases: Hope for the Future

被引：283

作者：

Russell, Oliver M. ^{[1
,2
]}

Gorman, Grainne S. ^{[1
,2
,3
]}

Lightowlers, Robert N. ^{[1
,4
]}

Turnbull, Doug M. ^{[1
,2
]}

机构：

[1] Newcastle Univ, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Newcastle Univ, Fac Med Sci, Clin & Translat Res Inst, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[3] NuTH NHS Fdn Trust, NIHR Newcastle BRC, Newcastle Upon Tyne NE4 5PL, Tyne & Wear, England

[4] Newcastle Univ, Fac Med Sci, Biosci Inst, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

来源：

CELL | 2020年 / 181卷 / 01期

基金：

英国医学研究理事会;

关键词：

ACTIVATED PROTEIN-KINASE; GENE-THERAPY; MOUSE MODEL; SELECTIVE ELIMINATION; ALLOTOPIC EXPRESSION; NAD(+) METABOLISM; DNA HETEROPLASMY; MTDNA MUTATION; NUCLEAR; MYOPATHY;

D O I：

10.1016/j.cell.2020.02.051

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum of mutations in genes encoded by either the nuclear or the mitochondrial genome. Treatments for mitochondrial diseases are currently focused on symptomatic management rather than improving the biochemical defect caused by a particular mutation. This review focuses on the latest advances in the development of treatments for mitochondrial disease, both small molecules and gene therapies, as well as methods to prevent transmission of mitochondrial disease through the germline.

引用

页码：168 / 188

页数：21

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