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Lookup NU author(s): Professor Bobby McFarlandORCiD,
Professor Robert Taylor,
Emeritus Professor Doug Turnbull
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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.
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
Print publication date: 01/01/2007
Series Title: Current Topics in Developmental Biology
Place Published: London
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