Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration

Authors

  • Amy K. Reeve,

    1. Mitochondrial Research Group, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Kim J. Krishnan,

    1. Mitochondrial Research Group, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
    2. Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Doug Turnbull

    1. Mitochondrial Research Group, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
    2. Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom
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Address for correspondence: Prof. D.M. Turnbull, Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Voice: +44(0)1912228565; fax: +44(0)1912228553. d.m.turnbull@ncl.ac.uk

Abstract

Patients with disorders from mutations in the mitochondrial genome have variable phenotypes, but common to many of these disorders are underlying changes in postmitotic cells, particularly neurons and muscle fibers. The mitochondrial dysfunction caused by these mutations has been shown to be associated with signs of apoptosis and to cause cell loss. Mutations of the mitochondrial genome have also been shown to accumulate with age and in common neurodegenerative diseases, such as Parkinson's disease. This review presents recent data to show that the information gained from studying patients with mitochondrial disorders can help our understanding of the role of mitochondrial DNA mutations in brain aging and neurodegeneration.

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