Lookup NU author(s): Professor Robert Taylor,
Dr Theresa Wardell,
Professor Robert Lightowlers,
Professor Doug Turnbull
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Mitochondrial DNA (mtDNA) is the only autonomously replicating source of DNA outside the nucleus. The mitochondrial genome encodes thirteen essential polypeptides of the mitochondrial respiratory chain. Defects of the mitochondrial genome can cause severe neurological and multi-systemic disorders. In many patients there is a mixture of mutated and wild-type mtDNA in the same cell (a situation termed heteroplasmy). In these patients the ratio of mutated to wild-type mtDNA is crucial and a biochemical defect only occurs with relatively high levels of mutated mtDNA within an individual cell. This threshold also seems to be critical in the development of mtDNA disease. Since the genetic defect causes a dysfunction in the terminal stage of oxidative metabolism, there is little potential for pharmacological intervention. Molecular techniques must be developed to reverse the ratio of mutated and wild-type mtDNA. In this paper we summarise our approach using both antigenomic peptide nucleic acids and cell necrosis. © Springer-Verlag 2000.
Author(s): Wardell TM; Lightowlers RN; Taylor RW; Turnbull DM
Publication type: Article
Publication status: Published
Journal: Neurological Sciences
Print publication date: 01/01/2000
ISSN (print): 1590-1874
ISSN (electronic): 1590-3478
Publisher: Springer Italia Srl
PubMed id: 11382188
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