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Sobenin et al. Vessel Plus 2019;3:14 Vessel Plus
DOI: 10.20517/2574-1209.2018.63

Original Article Open Access

Carotid atherosclerosis-related mutations of
mitochondrial DNA do not explain the phenotype of
metabolic syndrome

Igor A. Sobenin , Jukka T. Salonen , Zukhra B. Khasanova , Vasily V. Sinyov , Tatiana V. Kirichenko ,
3,4
1,5
1
1,2
1
Alexandra A. Melnichenko , Alexandra I. Prokudina , Varvara A. Orekhova , Andrey V. Grechko 6
1
1
1
1 Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow 121552, Russia.
2 Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russia.
3 Department of Public Health, Faculty of Medicine, University of Helsinki, Helsinki FI-00014, Finland.
4 MAS-Metabolic Analytical Services Oy, Helsinki FI-00990 Finland.
5 Institute for Atherosclerosis Research, Skolkovo Innovation Center, Moscow 143025, Russia.
6 Federal Scientific Clinical Center for Resuscitation and Rehabilitation, Moscow 109240, Russia.
Correspondence to: Dr. Igor A. Sobenin, Laboratory of Medical Genetics, National Medical Research Center of Cardiology, 15-a,
3-rd Cherepkovskaya Str., Moscow 121552, Russia. E-mail: igor.sobenin@gmail.com
How to cite this article: Sobenin IA, Salonen JT, Khasanova ZB, Sinyov VV, Kirichenko TV, Melnichenko AA, Prokudina AI,
Orekhova VA, Grechko AV. Carotid atherosclerosis-related mutations of mitochondrial DNA do not explain the phenotype of
metabolic syndrome. Vessel Plus 2019;3:14. http://dx.doi.org/10.20517/2574-1209.2018.63

Received: 22 Aug 2018 First Decision: 10 Jan 2019 Revised: 12 Feb 2019 Accepted: 19 Feb 2019 Published: 21 Apr 2019

Science Editor: Igor A. Sobenin Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract
Aim: This study was undertaken to explore the relationship between metabolic syndrome (MetS) and atherosclerosis-
related mitochondrial DNA (mtDNA) mutations, since MetS shares conventional and genetic risk factors with
atherosclerosis.

Methods: The study involved 220 participants; the carotid ultrasonography followed by intima-media thickness (cIMT)
measurement was used for quantitative diagnostics of carotid atherosclerosis. The diagnosis of MetS was set according
to International Diabetes Federation criteria (IDF-2009). The level of mtDNA heteroplasmy in leukocytes was determined
by qPCR. The severity of MetS was estimated on combination of serum HDL cholesterol, triglycerides and fasting glucose,
systolic and diastolic blood pressure, and waist circumference measurements.

Results: MetS was present in 44 study participants. Ten mtDNA mutations were tested, and m.3336T>C and m.652delG
heteroplasmy levels correlated with the clusterization of MetS symptoms, in particular the cardiovascular and metabolic
risk factors, of triglyceride and fasting glucose levels. The other mtDNA mutations each only correlated with one symptom
(i.e., m.652delG and m.12315G>A-with triglycerides; m.3256C>T, m.1555A>G, and m.15059G>A-with systolic blood

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