Laboratories IKBFU

Laboratory for Molecular Genetics Technologies

General information

The laboratory does research into the role of mitochondrial DNA mutations and develops methods to correct them. Mitochondrial DNA disorders are a common group of inborn errors of metabolism and diagnosis and management of patients with these defects has been a major interest of the group. The human mtDNA is a compact circular genome (16.6 kb) coding for components of the ATP-producing oxidative phosphorylation system. The contribution of the mitochondrial genome to cellular respiration, though vital, is not sufficient. Dozens of nuclear DNA (nDNA) coded proteins synthesized in the cytoplasm are imported into mitochondria and assembled with mitochondrially-synthesized proteins to form a functional oxidative phosphorylation system. Mutations of either mtDNA or nDNA have been associated with serious clinical syndromes. Organs with high energy requirements such as brain and muscles are preferentially affected. Symptoms include seizures, strokes, muscle weakness, blindness, diabetes, and hearing loss. In addition to defining novel mtDNA abnormalities in patients with mitochondrial disorders, the laboratory does research into molecular pathogenesis of these mutations and development of novel approaches to therapy.

Equipment

3730 Genetic Analyzer

QX200 Droplet Digital PCR System

OligoMaker ApS

Labconco FreeZone Freeze Dry Systems

Research Team

Lab head - Ilia Mazunin, PhD

Yury Ilinsky, PhD

Konstantin Orishchenko, PhD

Yuty Vyatkin, MS

Natalia Vereshchagina, MS, PhD-student

Julia Sofronova, MS, PhD-student

Eugene Chupakhin, PhD-student

Anastasy Shevtsova, MS

Publications

Sofronova JK, Ilinsky YY, Orishchenko KE, Chupakhin EG, Lunev EA, Mazunin IO. (2016) Detection of Mutations in Mitochondrial DNA by Droplet Digital PCR. Biochemistry (Mosc). 2016 Oct;81(10):1031-1037.

Patrushev MV, Mazunin IO, Vinogradova EN, Kamenski PA. (2015) Mitochondrial Fission and Fusion. Biochemistry (Mosc). 2015 Nov;80(11):1457-64.

Mazunin IO, Levitskii SA, Patrushev MV, Kamenski PA. (2015) Mitochondrial Matrix Processes. Biochemistry (Mosc). 2015 Nov;80(11):1418-28

Mozheĭ OI, Zatolokin PA, Vasilenko MA, Litvinova LS, Kirienkova EV, Mazunin IO. (2014) Evaluating the mitochondrial dna copy number in leukocytes and adipocytes from metabolic syndrome patients: pilot study. Mol Biol (Mosk). 2014 Jul-Aug;48(4):677-81.

Patrushev MV, Kamenski PA, Mazunin IO. (2014) Mutations in mitochondrial DNA and approaches for their correction. Biochemistry (Mosc). 2014 Nov;79(11):1151-60.

Sukernik RI, Volodko NV, Mazunin IO, Eltsov NP, Dryomov SV, Starikovskaya EB. (2012) Mitochondrial genome diversity in the Tubalar, Even, and Ulchi: contribution to prehistory of native Siberians and their affinities to Native Americans. Am J Phys Anthropol. 2012 May;148(1):123-38.

Mazunin IO, Volod'ko NV, Starikovskaia EB, Sukernik RI. (2010) Mitochondrial genome and human mitochondrial diseases. Mol Biol (Mosk). 2010 Sep-Oct;44(5):755-72

Volodko NV, Starikovskaya EB, Mazunin IO, Eltsov NP, Naidenko PV, Wallace DC, Sukernik RI. (2008) Mitochondrial genome diversity in arctic Siberians, with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americas. Am J Hum Genet. 2008 May;82(5):1084-100.

Toshchakov SV, Korzhenkov AA, Samarov NI, Mazunin IO, Mozhey OI, Shmyr IS, Derbikova KS, Taranov EA, Dominova IN, Bonch-Osmolovskaya EA, Patrushev MV, Podosokorskaya OA, Kublanov IV. (2015) Complete genome sequence of and proposal of Thermofilum uzonense sp. nov. a novel hyperthermophilic crenarchaeon and emended description of the genus Thermofilum. Stand Genomic Sci. 2015 Dec 9;10:122. doi: 10.1186/s40793-015-0105-y