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Genetic Variation pp 227–257Cite as

Detection of Mitochondrial DNA Variation in Human Cells

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 628))

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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Authors and Affiliations

  1. Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK

    Kim J. Krishnan, John K. Blackwood, Amy K. Reeve, Douglass M. Turnbull & Robert W. Taylor

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  1. Kim J. Krishnan
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  2. John K. Blackwood
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  3. Amy K. Reeve
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  4. Douglass M. Turnbull
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  5. Robert W. Taylor
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Corresponding author

Correspondence to Kim J. Krishnan .

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Editors and Affiliations

  1. Medicines Research Centre, GlaxoSmithKline R&D Limited, Gunnels Wood Road, Stevenage, Hertfordshire, SG12NY, United Kingdom

    Michael R. Barnes

  2. Institute of Psychiatry, Social, Genetic & Developmental, King's College, Denmark Hill 111, London, SE58AF, United Kingdom

    Gerome Breen

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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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  • Publisher Name: Humana Press, Totowa, NJ

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