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Tipping the scales in favour of mitochondrial gene therapy

Gene Therapy volume 6, pages 1909–1910 (1999)Cite this article

Mitochondria are virtually ubiquitous organelles in animal cells, containing the only endogenous extrachromosomal DNA. In humans this 16.6 kb circular genome (mtDNA) encodes some 13 polypeptides, 2 rRNAs and 22 tRNAs, all of which are involved in mitochondrial biogenesis and ATP production. The nuclear genome exerts close control over the mitochondrial genome, encoding approximately 1000 proteins which are imported and active in mitochondria.

Mitochondrial disorders principally affect tissues with high ATP turnover, such as muscle and brain. They cannot be effectively treated and are often fatal. The mitochondrial genome is responsible for a disproportionately high occurrence of mitochondrial disease, for which over 50 pathogenic mutations and rearrangements have been identified.1 A recent study in the north-east of England by Chinnery and Turnbull (personal communication) has shown that the occurrence of pathological mitochondrial mutations in this population is at least 1/8000 with an incidence of 1/15 000 for mitochondrial disease manifestation. This becomes significant when combined with the observation that one in every hundred individuals is born with a serious genetic defect,2 meaning that 1.25% of all genetic disorders may derive from the mitochondrial genome.

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Authors and Affiliations

  1. Division of Biomedical Sciences, Cystic Fibrosis Gene Therapy Research Group, Section of Molecular Genetics, Imperial College School of Medicine, Sir Alexander Fleming Building, South Kensington, London, SW7 2AZ, UK

    Brian Bigger, Jean-Marc Collombet & Charles Coutelle

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  1. Brian Bigger
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  2. Jean-Marc Collombet
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  3. Charles Coutelle
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Bigger, B., Collombet, JM. & Coutelle, C. Tipping the scales in favour of mitochondrial gene therapy. Gene Ther 6, 1909–1910 (1999). https://doi.org/10.1038/sj.gt.3301090

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