Mitochondrial DNA Heteroplasmy and Methods to Detect
Mutations in mitochondrial DNA (mtDNA) often lead to the various pathological processes. There are some difficulties of the detection of mtDNA mutants in clinical diagnostics, which are mainly causid by the phenomenon of heteroplasmy-simultaneous presence of different mtDNA variants in a cell. Moreover, the level of heteroplasmy substantially contributes to the type and severity of symptoms. In this study, we discuss the issue of biological material choice and methods for detection of heteroplasmy. The considered methods could be used as routine clinical tests for verification of «mitochondrial disease» diagnosis, as well as for research dedicated to structural features of normal and pathological mtDNA.