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Recent Advances in Mitochondrial Disease

Lookup NU author(s): Dr Charlotte Alston, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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© Copyright 2017 Lyndsey Craven et al. Mitochondrial disease is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis in many patients. The last five years has brought remarkable progress in this area. We provide a brief overview of mitochondrial origin, function, and biology, which are key to understanding the genetic basis of mitochondrial disease. However, the primary purpose of this review is to describe the recent advances related to the diagnosis, genetic basis, and prevention of mitochondrial disease, highlighting the newly described disease genes and the evolving methodologies aimed at preventing mitochondrial DNA disease transmission.

Publication metadata

Author(s): Craven L, Alston CL, Taylor RW, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Annual Review of Genomics and Human Genetics

Year: 2017

Volume: 18

Pages: 257-275

Print publication date: 31/08/2017

Online publication date: 17/04/2017

Acceptance date: 02/04/2016

Date deposited: 25/10/2017

ISSN (print): 1527-8204

ISSN (electronic): 1545-293X

Publisher: Annual Reviews Inc.


DOI: 10.1146/annurev-genom-091416-035426


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Funder referenceFunder name
Biotechnology and Biological Sciences Research Council (BBSRC)
Medical Research Council (MRC)
Wellcome Trust Strategic Award (096919/Z/11/Z)