Mitochondrial genome variability: the effect on cellular functional activity

Aleksandrina S Volobueva,1 Alexandra A Melnichenko,2 Andrey V Grechko,3 Alexander N Orekhov2,4 1Laboratory of Gene Therapy, Biocad Biotechnology Company, Saint-Petersburg, Strelnya, Russia; 2Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Russian Academy of Sciences, Moscow, Russia; 3Federal Scientific Clinical Center for Resuscitation and Rehabilitation, Moscow, Russia; 4Institute for Atherosclerosis Research, Skolkovo Innovative Center, Moscow, Russia Abstract: Mitochondria are the key players in cell metabolism, calcium homeostasis, and reactive oxygen species (ROS) production. Mitochondrial genome alterations are reported to be associated with numerous human disorders affecting nearly all tissues. In this review, we discuss the available information on the involvement of mitochondrial DNA (mtDNA) mutations in cell dysfunction. Keywords: mitochondria, mutation, apoptosis, reactive oxygen species, ATP, electron transfer chai