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Mitochondrial disease - Its impact, etiology, and pathology

Lookup NU author(s): Professor Bobby McFarland, Professor Robert Taylor, Emeritus Professor Doug Turnbull

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Abstract

Mitochondria are ubiquitous organelles that are intimately involved in many cellular processes, but whose principal task is to provide the energy necessary for normal cell functioning and maintenance. Disruption of this energy supply can have devastating consequences for the cell, organ, and individual. Over the last two decades, mutations in both mitochondrial DNA (mtDNA) and nuclear DNA have been identified as causative in a number of well-characterized clinical syndromes, although for mtDNA mutations in particular, this relationship between genotype and phenotype is often not straightforward. Despite this, a number of epidemiological studies have been undertaken to assess the prevalence of mtDNA mutations and these have highlighted the impact that mtDNA disease has on both the community and individual families. Although there has been considerable improvement in the diagnosis of mitochondrial disorders, disappointingly this has not been matched by developments toward effective treatment. Nevertheless, our understanding of mitochondrial biology is gathering pace and progress in this area will be crucial to devising future treatment strategies. In addition to mitochondrial disease, evidence for a central role of mitochondria in other processes, such as aging and neurodegeneration, is slowly accumulating, although their role in cancer remains controversial. In this chapter, we discuss these issues and offer our own views based on our cumulative experience of investigating and managing these diseases over the last 20 years. (c) 2007, Elsevier Inc.


Publication metadata

Author(s): McFarland R, Taylor RW, Turnbull DM

Editor(s): Justin St. John, Gerald Schatten

Publication type: Book Chapter

Publication status: Published

Book Title: The Mitochondrion in the Germline and Early Development

Year: 2007

Volume: 77

Pages: 113-155

Print publication date: 01/01/2007

Series Title: Current Topics in Developmental Biology

Publisher: Elsevier

Place Published: London

URL: http://dx.doi.org/10.1016/S0070-2153(06)77005-3

DOI: 10.1016/S0070-2153(06)77005-3

Library holdings: Search Newcastle University Library for this item

ISBN: 9780123736628


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