Mitochondrial diseases caused by mtDNA mutations: a mini-review

Anastasia I Ryzhkova,1,2 Margarita A Sazonova,1,3 Vasily V Sinyov,1 Elena V Galitsyna,4 Mariya M Chicheva,4 Alexandra A Melnichenko,4 Andrey V Grechko,5 Anton Yu Postnov,1 Alexander N Orekhov,3,6 Tatiana P Shkurat4 1Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow, Russian Federation; 2Department of Virology, K.I. Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology-MVA, Moscow, Russian Federation; 3Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow, Russian Federation; 4Department of Genetics, Southern Federal University, Rostov-on-Don, Russian Federation; 5Federal Research and Clinical Center of Reanimatology and Rehabilitology, Moscow, Russian Federation; 6Institute for Atherosclerosis Research, Skolkovo Innovative Centre, Moscow Region, Russian Federation Abstract: There are several types of mitochondrial cytopathies, which cause a set of disorders, arise as a result of mitochondria’s failure. Mitochondria’s functional disruption leads to development of physical, growing and cognitive disabilities and includes multiple organ pathologies, essentially disturbing the nervous and muscular systems. The origins of mitochondrial cytopathies are mutations in genes of nuclear DNA encoding mitochondrial proteins or in mitochondrial DNA. Nowadays, numerous mtDNA mutations significant to the appearance and progress of pathologies in humans are detected. In this mini-review, we accent on the mitochondrial cytopathies related to mutations of mtDNA. As well known, there are definite set of symptoms of mitochondrial cytopathies distinguishing or similar for different syndromes. The present article contains data about mutations linked with cytopathies that facilitate diagnosis of different syndromes by using genetic analysis methods. In addition, for every individual, more effective therapeutic approach could be developed after wide-range mutant background analysis of mitochondrial genome. Keywords: mitochondrial cytopathy, mitochondrial dysfunction, mtDNA mutation, mitochondrial gene mutatio