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a Department of
Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne
NE2 4HH, UK, b Department of Radiation Oncology,
University of Texas Medical Branch, Galveston, Texas, USA, c Department of Ophthalmology, The
University of Newcastle upon Tyne, UK
Correspondence to: Dr Chinnery.
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,12 Wilson
disease,3 and autosomal recessive hereditary spastic
paraplegia,4 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 (table 1).
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 (fig 1). 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.9293 Since the characterisation
of the first pathogenic mtDNA defects in 1988,513 over
50 point mutations and well over 100 rearrangements of the mitochondrial genome have been associated with human
disease9495 (http://www.gen.emory.edu/mitomap.html).
These disorders form the focus of this article.
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