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Sazonova et al. Vessel Plus 2017;1:182-91 Vessel Plus
DOI: 10.20517/2574-1209.2017.16
www.vpjournal.net
Topic: Atherosclerosis and Related Diseases Open Access

New markers of atherosclerosis: a

threshold level of heteroplasmy in mtDNA

mutations

Margarita A. Sazonova , Anastasia I. Ryzhkova , Vasily V. Sinyov , Elena V. Galitsyna , Varvara A. Orekhova ,
1
2,3
2
1,2
2
Alexandra A. Melnichenko , Alexander N. Orekhov , Alessio L. Ravani , Igor A. Sobenin 1,2
2
2,3
4
1 Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 121552 Moscow, Russia.
2 Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 125315 Moscow, Russia.
3 Institute for Atherosclerosis Research, Skolkovo Innovative Centre, 121609 Moscow, Russia.
4 Unit for the Study of Morphology and Arterial Function, Centro Cardiologico Monzino, IRCCS, 20138 Milan, Italy.
Correspondence to: Dr. Alessio L. Ravani, Unit for the Study of Morphology and Arterial Function, Centro Cardiologico Monzino, IRCCS, Via C. Parea,
4, 20138 Milan, Italy. E-mail: alessio.ravani@ccfm.it
How to cite this article: Sazonova MA, Ryzhkova AI, Sinyov VV, Galitsyna EV, Orekhova VA, Melnichenko AA, Orekhov AN, Ravani AL, Sobenin
IA. New markers of atherosclerosis: a threshold level of heteroplasmy in mtDNA mutations. Vessel Plus 2017;1:182-91.
Dr. Alessio L. Ravani is a research technician at Centro Cardiologico Monzino. He takes his degrees in Biological
Sciences at University DegliStudi Di Milano in 2002. He has been continuously working on non-invasive
techniques for the assessment of arterial morphology and functionality using B-Mode ultrasound for the study
of carotid intima media thickness. Furthermore, he studies vascular changes in the brachial artery using flow-
mediated dilatation technique and laser Doppler flow measurement for evaluating microvascular changes in
response to pharmacological and non-pharmacological stimuli. He is author of 23 publications on international
journals with impact factor.

ABSTRACT

Article history: Aim: The aim of the present article was the detection of threshold heteroplasmy level of
Received: 26 May 2017 mitochondrial DNA mutations, above which a patient is at increased risk of atherosclerotic
Accepted: 11 Sep 2017 lesions. Besides, this parameter was detected for mutations, in which after reaching threshold
Published: 28 Dec 2017 heteroplasmy level, a protective antiatherogenic effect started to appear. Methods: The
participants of the study were 700 women and men from the Moscow region. Fragments of
Key words: DNA, amplified by polymerase chain reaction, were analyzed with pyrosequencing technology.
Threshold heteroplasmy level, Then on the basis of pyrograms’ peaks in the samples, the heteroplasmy level of the investigated
mutation, mitochondrial genome mutations was detected. Results: The threshold heteroplasmy level of
mitochondrial genome,
mitochondrial DNA, 11 investigated mutations (m.5178C>A, m.15059G>A, m.652delG, m.13513G>A, m.14846G>A,
atherosclerosis, m.652insG, m.12315G>A, m.3336T>C, m.1555A>G, m.14459G>A, m.3256C>T) in individuals
gene, with atherosclerotic plaques or thickening of the intima-medial layer of carotid arteries was
marker detected. Conclusion: Using the method developed in our laboratory, the authors managed
to determine threshold heteroplasmy levels of 11 mitochondrial genome mutations associated

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