Quantitative assessment of heteroplasmy of mitochondrial genome : perspectives in diagnostics and methodological pitfalls

Igor A. Sobenin, Konstantin Y. Mitrofanov, Andrey V. Zhelankin, Margarita A. Sazonova, Anton Y. Postnov, Victor V. Revin, Yuri V. Bobryshev, Alexander N. Orekhov

    Research output: Contribution to journalArticlepeer-review

    Abstract

    The role of alterations of mitochondrial DNA (mtDNA) in the development of human pathologies is not understood well. Most of mitochondrial mutations are characterized by the phenomenon of heteroplasmy which is defined as the presence of a mixture of more than one type of an organellar genome within a cell or tissue. The level of heteroplasmy varies in wide range, and the expression of disease is dependent on the percent of alleles bearing mutations, thus allowing consumption that an upper threshold level may exist beyond which the mitochondrial function collapses. Recent findings have demonstrated that some mtDNA heteroplasmic mutations are associated with widely spread chronic diseases, including atherosclerosis and cancer. Actually, each etiological mtDNA mutation has its own heteroplasmy threshold that needs to be measured. Therefore, quantitative evaluation of a mutant allele of mitochondrial genome is an obvious methodological challenge, since it may be a keystone for diagnostics of individual genetic predisposition to the disease. This review provides a comprehensive comparison of methods applicable to the measurement of heteroplasmy level of mitochondrial mutations associated with the development of pathology, in particular, in atherosclerosis and its clinical manifestations.
    Original languageEnglish
    Article number292017
    Number of pages9
    JournalBioMed Research International
    Volume2014
    DOIs
    Publication statusPublished - 2014

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