Ryzhkova AI, Sazonova MA, Sinyov VV, Galitsyna EV, Chicheva MM, Melnichenko AA, Khasanova ZB, Zhelankin AV, Mitrofanov KY, Postnov AY, Orekhov AN, Sobenin IA.
Curr Pharm Des. 2016 Nov 23. [Epub ahead of print]
Mitochondrial cytopathies are a group of diseases which occur in case of disturbance of the functional activity of mitochondria. Mitochondrial diseases are a heterogeneous group of multiple organ pathologies, mainly affecting the nervous and muscular systems. The causes of mitochondrial cytopathies may be nuclear genome mutations occurring in genes coding mitochondrial proteins and mitochondrial genome mutations which occur sporadically or maternally inherited. At the present time many factors leading to the occurrence of mutations are known. A lot of mtDNA mutations, leading to the appearance of pathologies in humans, were detected. The present review considers mitochondrial cytopathies and their diagnostic markers. In addition, the article presents data on the mutations associated with cytopathies. The detection these mutations can facilitate a more accurate diagnosis of syndromes and hence more effective therapeutic approach.