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Mitochondrial DNA mutations in human disease

Lookup NU author(s): Dr Laura Greaves, Professor Robert Taylor


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Since their first association with human disease in 1988, more than 250 pathogenic point mutations and rearrangements of the 16.6 kb mitochondrial genome (mtDNA) have been reported in a spectrum of clinical disorders which exhibit prominent muscle and central nervous system involvement. With novel mutations and disease phenotypes still being described, mtDNA disorders are recognized collectively as common, inherited genetic diseases although relatively little is still known concerning the precise pathophysiological mechanisms that lead to cell dysfunction and pathology. This review considers the basic principles of mitochondrial genetics which govern both the behaviour and investigation of pathogenic mtDNA mutations summarizing recent advances in this area, and an assessment of the ongoing debate into the role of somatic mtDNA mutations in neurodegenerative disease, ageing and cancer. © 2006 IUBMB.

Publication metadata

Author(s): Greaves LC, Taylor RW

Publication type: Review

Publication status: Published

Journal: IUBMB Life

Year: 2006

Volume: 58

Issue: 3

Pages: 143-151

ISSN (print): 1521-6543

ISSN (electronic): 1521-6551


DOI: 10.1080/15216540600686888