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Mitochondrial DNA mutations and human disease

Lookup NU author(s): Dr Helen Tuppen, Emeritus Professor Doug Turnbull, Professor Robert Taylor

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Abstract

Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects. Since the identification of the first human pathological mitochondrial DNA (mtDNA) mutations in 1988, significant efforts have been spent in cataloguing the vast array of causative genetic defects of these disorders. Currently, more than 250 pathogenic mtDNA mutations have been identified. An ever-increasing number of nuclear DNA mutations are also being reported as the majority of proteins involved in mitochondrial metabolism and maintenance are nuclear-encoded. Understanding the phenotypic diversity and elucidating the molecular mechanisms at the basis of these diseases has however proved challenging. Progress has been hampered by the peculiar features of mitochondrial genetics, an inability to manipulate the mitochondrial genome, and difficulties in obtaining suitable models of disease. In this review, we will first outline the unique features of mitochondrial genetics before detailing the diseases and their genetic causes, focusing specifically on primary mtDNA genetic defects. The functional consequences of mtDNA mutations that have been characterised to date will also be discussed, along with current and potential future diagnostic and therapeutic advances. (C) 2009 Elsevier B.V. All rights reserved.


Publication metadata

Author(s): Tuppen HAL, Blakely EL, Turnbull DM, Taylor RW

Publication type: Review

Publication status: Published

Journal: Biochimica et Biophysica Acta: Bioenergetics

Year: 2010

Volume: 1797

Issue: 2

Pages: 113-128

ISSN (print): 0005-2728

ISSN (electronic): 0006-3002

Publisher: ELSEVIER SCIENCE BV

URL: http://dx.doi.org/10.1016/j.bbabio.2009.09.005

DOI: 10.1016/j.bbabio.2009.09.005


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