Article
Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls.
BioMed research international - 1 Jan 2014
Sobenin Igor A, Mitrofanov Konstantin Y, Zhelankin Andrey V, Sazonova Margarita A, Postnov Anton Y, Revin Victor V, Bobryshev Yuri V, Orekhov Alexander N
Abstract excerpt
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...
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