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Mitochondrial Diseases: Hope for the Future

Lookup NU author(s): Dr Oliver Russell, Professor Grainne Gorman, Professor Robert Lightowlers, Emeritus Professor Doug Turnbull

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Abstract

© 2020 Russell et al. review recent progress in the varied approaches to treat and prevent mitochondrial disease, including small-molecule-based approaches to improve mitochondrial function or turnover, manipulation of the mitochondrial genome, and mitochondrial replacement therapy.© 2020Mitochondrial 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.

Publication metadata

Author(s): Russell OM, Gorman GS, Lightowlers RN, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Cell

Year: 2020

Volume: 181

Issue: 1

Pages: 168-188

Print publication date: 02/04/2020

Online publication date: 26/03/2020

Acceptance date: 02/04/2018

ISSN (print): 0092-8674

ISSN (electronic): 1097-4172

Publisher: Cell Press

URL: https://doi.org/10.1016/j.cell.2020.02.051

DOI: 10.1016/j.cell.2020.02.051

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