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Lookup NU author(s): Professor Patrick Chinnery, Dr Richard Andrews, Emeritus Professor Doug Turnbull
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The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich's ataxia, Wilson disease, and autosomal recessive hereditary spastic paraplegia, have been shown to have a mitochondrial basis, and we are just starting to unravel the complex nuclear genetic disorders which directly cause mitochondrial dysfunction. However, in addition to the 3 billion base pair nuclear genome, each human cell typically contains thousands of copies of a small, 16.5 kb circular molecule of double stranded DNA. Mitochondrial DNA (mtDNA) accounts for only 1% of the total cellular nucleic acid content. It encodes for 13 polypeptides which are essential for aerobic metabolism and defects of the mitochondrial genome are an important cause of human disease. Since the characterisation of the first pathogenic mtDNA defects in 1988, over 50 point mutations and well over 100 rearrangements of the mitochondrial genome have been associated with human disease (http://www.gen.emory.edu/mitomap.html). These disorders form the focus of this article.
Author(s): Chinnery PF, Howell N, Andrews RM, Turnbull DM
Publication type: Review
Publication status: Published
Journal: Journal of Medical Genetics
Year: 1999
Volume: 36
Issue: 6
Pages: 425-436
Print publication date: 01/06/1999
ISSN (print): 0022-2593
ISSN (electronic):
URL: http://dx.doi.org/10.1136/jmg.36/6/425
DOI: 10.1136/jmg.36.6.425
PubMed id: 10874629
Notes: DOI not resolving properly. Alternate URL: http://jmg.bmj.com/content/36/6/425.full.pdf+html
