Abstract
The ability to detect mitochondrial DNA (mtDNA) variation within human cells is important not only to identify mutations causing mtDNA disease, but also as mtDNA mutations are being increasingly described in many ageing tissues and in complex diseases such as diabetes, neurodegeneration and cancer. In this review, we discuss the main molecular genetic techniques that can be applied to study the two main types of mtDNA mutation: point mutations and large-scale mtDNA rearrangements. We then describe in detail protocols routinely used within our laboratory to analyse mtDNA mutations in individual human cells such as single muscle fibres and individual neurons to study the relationship between mtDNA mutation load and respiratory chain dysfunction.
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Acknowledgements
KJK has a personal fellowship funded by the Alzheimer’s Research Trust. We are grateful for financial support from the Wellcome Trust, SPARKS (Sport Aiding Medical Research for Kids) and the Medical Research Council.
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Krishnan, K.J., Blackwood, J.K., Reeve, A.K., Turnbull, D.M., Taylor, R.W. (2010). Detection of Mitochondrial DNA Variation in Human Cells. In: Barnes, M., Breen, G. (eds) Genetic Variation. Methods in Molecular Biology, vol 628. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60327-367-1_13
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DOI: https://doi.org/10.1007/978-1-60327-367-1_13
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