Lookup NU author(s): Dr Paul Smith,
Professor Robert Lightowlers
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Pathogenic mutations of the mitochondrial genome are frequently found to co-exist with wild-type mtDNA molecules, a state known as heteroplasmy. In most disease cases, the mutation is recessive with manifestation of a clinical phenotype occurring when the proportion of mutated mtDNA exceeds a high threshold. The concept of increasing the ratio of healthy to mutated mtDNA as a means to correcting the biochemical defect has received much attention. A number of strategies are highlighted in this article, including manipulation of the mitochondrial genome by antigenomic drugs or restriction endonucleases, zinc finger peptide-targeted nucleases and exercise-induced gene shifting. The feasibility of these approaches has been demonstrated in a number of models, however more work is necessary before use in human patients.
Author(s): Smith PM, Lightowlers RN
Publication type: Article
Publication status: Published
Journal: Journal of Inherited Metabolic Disease
Print publication date: 27/05/2010
ISSN (print): 0141-8955
ISSN (electronic): 1573-2665
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