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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.
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.
URL: https://doi.org/10.1146/annurev-genom-091416-035426
DOI: 10.1146/annurev-genom-091416-035426
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