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Sinyov et al. Vessel Plus 2017;1:145-50 Vessel Plus
DOI: 10.20517/2574-1209.2016.04
www.vpjournal.net
Short Communication Open Access

Potential use of buccal epithelium for

genetic diagnosis of atherosclerosis using

mtDNA mutations

Vasily V. Sinyov , Margarita A. Sazonova , Anastasia I. Ryzhkova , Elena V. Galitsyna , Alexsandra A.
2
3
1
1,2
Melnichenko , Anton Y. Postnov , Alexander N. Orekhov , Andrey V. Grechko , Igor A. Sobenin 1,2
1
5
2,4
2
1 Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, Moscow 121552, Russia.
2 Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russia.
3 Department of Genetics, Southern Federal University, Rostov-on-Don 344006, Russia.
4 Institute for Atherosclerosis Research, Skolkovo Innovative Centre, Moscow 121609, Russia.
5 Federal Scientific Clinical Center for Resuscitation and Rehabilitation, Moscow 109240, Russia.
Correspondence to: Dr. Vasily V. Sinyov, Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a, 3rd
Cherepkovskaya Street, Moscow 121552, Russia. E-mail: centaureaceanus@mail.ru
How to cite this article: Sinyov VV, Sazonova MA, Ryzhkova AI, Galitsyna EV, Melnichenko AA, Postnov AY, Orekhov AN, Grechko AV, Sobenin
IA. Potential use of buccal epithelium for genetic diagnosis of atherosclerosis using mtDNA mutations. Vessel Plus 2017;1:145-50.
PhD student Vasily V. Sinyov is a junior research scientist in Laboratory of Medical Genetics, Russian Cardiology
Research and Production Complex. He graduated from Moscow Agricultural Academy named after Timiryazev in
2010. He has worked in the group for the study of molecular-genetic mechanisms of atherogenesis in the Institute
for Atherosclerosis Research, Skolkovo Innovation Centre. He has more than 20 publications which are dedicated to
investigations of the association of mitochondrial genome mutations with cardiovascular diseases, and in particular
with atherosclerosis.

ABSTRACT

Article history: Aim: The aim of this pilot study was to compare the heteroplasmy levels of specific
Received: 10 Oct 2016 mitochondrial (mt)DNA mutations in human buccal epithelial and whole blood cells in
Accepted: 6 Jan 2017 participants with different degrees of predisposition to atherosclerosis. The potential for
Published: 26 Sep 2017 buccal epithelium to be used for the genetic diagnosis of atherosclerosis using mtDNA
mutations was assessed. Methods: Samples of buccal epithelial and whole blood cells were
Key words: obtained from 134 donors. DNA was extracted from the samples and subjected to polymerase
Buccal cell, chain reaction and pyrosequencing. The threshold heteroplasmy levels of the mutations
mutation, m.12315G>A, m.3336T>C, m.1555А>G, m.13513G>A, and m.3256C>T were analyzed in
mtDNA, order to assess the potential for using buccal epithelium and whole blood for the genetic
threshold heteroplasmy level, diagnosis of atherosclerosis. Results: The threshold heteroplasmy levels of the assessed
mitochondrial genome, mitochondrial mutations did not significantly differ between buccal epithelial and whole
atherosclerosis blood cells. Conclusion: Buccal epithelial cells may be preferable to whole blood cells for
analyzing the association of mitochondrial genome mutations with atherosclerosis.

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