Biochemistry (Moscow)

, Volume 81, Issue 10, pp 1031–1037 | Cite as

Detection of mutations in mitochondrial DNA by droplet digital PCR

  • J. K. Sofronova
  • Y. Y. Ilinsky
  • K. E. Orishchenko
  • E. G. Chupakhin
  • E. A. Lunev
  • I. O. MazuninEmail author
Molecular Biology of Mitochondria (Special Issue) Guest Editor — P. A. Kamenski


Mutations in mitochondrial DNA (mtDNA) may result in various pathological processes. Detection of mutant mtDNAs is a problem for diagnostic practice that is complicated by heteroplasmy – a phenomenon of the inferring presence of at least two allelic variants of the mitochondrial genome. Also, the level of heteroplasmy largely determines the profile and severity of clinical manifestations. Here we discuss detection of mutations in heteroplasmic mtDNA using up-todate methods that have not yet been introduced as routine clinical assays. These methods can be used for detecting mutations in mtDNA to verify diagnosis of “mitochondrial disease”, studying dynamics of mutant mtDNA in body tissues of patients, as well as investigating structural features of mtDNAs. Original data on allele-specific discrimination of m.11778G>A mutation by droplet digital PCR are presented, which demonstrate an opportunity for simultaneous detection and quantitative assessment of mutations in mtDNAs.

Key words

mitochondria mutations mitochondrial diseases heteroplasmy droplet digital PCR 


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Copyright information

© Pleiades Publishing, Ltd. 2016

Authors and Affiliations

  • J. K. Sofronova
    • 1
  • Y. Y. Ilinsky
    • 1
    • 2
    • 3
  • K. E. Orishchenko
    • 1
    • 2
  • E. G. Chupakhin
    • 1
  • E. A. Lunev
    • 1
  • I. O. Mazunin
    • 1
    Email author
  1. 1.Immanuil Kant Baltic Federal UniversityInstitute of Chemistry and BiologyKaliningradRussia
  2. 2.Federal Research Center Institute of Cytology and GeneticsSiberian Branch of the Russian Academy of SciencesNovosibirskRussia
  3. 3.Novosibirsk State UniversityNovosibirskRussia

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