I. Sobenin

Potential use of buccal epithelium for genetic diagnosis of atherosclerosis using mtDNA mutations

1Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, Moscow 121552, Russia. 2Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russia. 3Department of Genetics, Southern Federal University, Rostov-on-Don 344006, Russia. 4Institute for Atherosclerosis Research, Skolkovo Innovative Centre, Moscow 121609, Russia. 5Federal Scientific Clinical Center for Resuscitation and Rehabilitation, Moscow 109240, Russia.

New markers of atherosclerosis: a threshold level of heteroplasmy in mtDNA mutations

1Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 121552 Moscow, Russia. 2Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 125315 Moscow, Russia. 3Institute for Atherosclerosis Research, Skolkovo Innovative Centre, 121609 Moscow, Russia. 4Unit for the Study of Morphology and Arterial Function, Centro Cardiologico Monzino, IRCCS, 20138 Milan, Italy.

Small dense and desialylated low density lipoprotein in diabetic patients

1Department of Cardiovascular Pathology, Russian Cardiology Research and Production Complex, 121552 Moscow, Russia. 2Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 125315 Moscow, Russia. 3Department of Genetics, Southern Federal University, 344090 Rostov-on-Don, Russia. 4Institute for Atherosclerosis Research, Skolkovo Innovative Center, 121609 Moscow, Russia. 5Federal Scientific Clinical Center for Resuscitation and Rehabilitation, 109240 Moscow, Russia.

Use of Natural Products for Direct Anti-Atherosclerotic Therapy

Atherosclerosis and vascular disorders, which result from atherosclerosis, represent one of the major problems in the modern medicine and public health. Atherosclerosis is character‐ ized by structural and functional changes of large arteries. The approaches for the treatment of atherosclerosis require at least the prevention of growth of atherosclerotic lesions and re‐ duction in the lipid core mass, which would followed by plaque stabilization. Taken togeth‐ er, these approaches could theoretically result in the regression of arterial lesions.

A Method for Measuring the Heteroplasmy Level of Mitochondrial DNA Mutations

This paper presents a method for measuring the heteroplasmy level of mitochondrial DNA mutations, which is based on real-time PCR using TaqMan fluorescent probes. The method makes it possible to detect the heteroplasmy level of mtDNA mutations and has high accuracy and resolution. It shows significant differences between the parameters of heteroplasmy of patients belonging to different groups by the degree of disease. Application of this method, in particular, to determine the predisposition to atherosclerosis, makes it possible to determine whether the patient belongs to a low-, medium-, or high-risk group of atherosclerosis.

Data on association of mitochondrial heteroplasmy and cardiovascular risk factors: Comparison of samples from Russian and Mexican populations

Despite the fact that the role of mitochondrial genome mutations in a number of human diseases is widely studied, the effect of mitochondrial heteroplasmy in the development of cardiovascular disease has not been adequately investigated. In this study, we compared the heteroplasmy levels of mtDNA from leukocytes for m.3256C>T, m.3336T>C, m.12315G>A, m.5178C>A, m.13513G>A, m.14459G>A, m.14846G>A, m.15059G>A, m.652insG and m.1555A>G mutations in CVD-free subjects and CVD patients in samples derived from Russian and Mexican populations. It was demonstrated that heteroplasmy level of m.5178C>A was associated with CVD in Russian men, and m.14459G>A – in Russian women. Mitochondrial heteroplasmy level of m.13513G>A and m.652insG were associated with CVD in Mexican men, and only m.652insG– in Mexican women. The levels of heteroplasmy for mitochondrial mutations m.3336T>C, m.5178C>A, m.14459G>A, m.14846G>A and m.1555A>G were significantly higher in CVD-free Mexican men, and for m.3256C>T, m.3336T>C, and m.14459G>A – in CVD-free Mexican women.

Is insulin pro-atherogenic at the cellular level?

1Department of Cardiovascular Pathology, National Medical Research Center of Cardiology, 121552 Moscow, Russia. 2Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 125315 Moscow, Russia. 3Federal Scientific Clinical Center for Resuscitation and Rehabilitation, 109240 Moscow, Russia. 4Institute for Atherosclerosis Research, Skolkovo Innovative Center, 121609 Moscow, Russia.

The heteroplasmy level of some mutations in gene MT-CYB among women with asymptomatic atherosclerosis

Atherosclerosis is a polygenic socially significant disease whose risk factors include coronary heart disease, diabetes, hypertension, and myocardial infarction. According to the literature, mutations m.14846G>A (G34S), m.15762G>A (G339Q), m.15084G>A (W113Ter), and m.15059G>A (G190Ter) of cytochrome B gene (MT-CYB) are associated with mitochondrial myopathies, myoglobinuria, and exercise intolerance. Preliminary studies carried out by the authors made it possible to discover an association of certain mitochondrial genome mutations with atherosclerotic lesions of aortic intima in people who died as a result of an accident or sudden death. The most interesting seemed to be the data on the association of mutations m.14846G>A and m.15059G>A of the cytochrome B gene with lipofibrous aortic plaques, because these mutations affect the mitochondrial respiratory chain enzyme. Defects in the given chain may be the reason for the launch of pathogenic mechanisms in the human body. Owing to the fact that mutations in the mitochondrial genome are inherited by the maternal type, it was decided to analyze cytochrome B gene mutations in a sample of female volunteers from Moscow oblast. According to the findings, mutations m.14846G>A and m.15059G>A are highly significantly associated with atherosclerotic lesions of the carotid arteries: m.14846G>A is antiatherogenic and m.15059G>A is proatherogenic.