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Mitochondrial DNA and genetic disease

Lookup NU author(s): Emeritus Professor Doug Turnbull

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Abstract

From their very beginning to the present day, mitochondria have evolved to become a crucial organelle within the cell. The mitochondrial genome encodes only 37 genes, but its compact structure and minimal redundancy results in mutations on the mitochondrial genome being an important cause of genetic disease. In the present chapter we describe the up-to-date knowledge about mitochondrial DNA structure and function, and describe some of the consequences of defective function including disease and aging.


Publication metadata

Author(s): Krishnan KJ, Turnbull DM

Publication type: Review

Publication status: Published

Journal: Essays in Biochemistry: Mitochondrial Function

Year: 2010

Volume: 47

Pages: 139-151

Print publication date: 14/06/2010

ISSN (print): 0071-1365

ISSN (electronic): 1744-1358

Publisher: PORTLAND PRESS LTD

URL: http://dx.doi.org/10.1042/BSE0470139

DOI: 10.1042/BSE0470139


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