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Altering the balance between healthy and mutated mitochondrial DNA

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.

Publication metadata

Author(s): Smith PM, Lightowlers RN

Publication type: Article

Publication status: Published

Journal: Journal of Inherited Metabolic Disease

Year: 2011

Volume: 34

Issue: 2

Pages: 309-313

Print publication date: 27/05/2010

ISSN (print): 0141-8955

ISSN (electronic): 1573-2665

Publisher: Springer


DOI: 10.1007/s10545-010-9122-6


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Funder referenceFunder name
074454Wellcome Trust