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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (29 November 2023) | Viewed by 9063

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Special Issue Editor

Prof. Dr. Marat Ezhov

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Guest Editor

Federal State Budget Institution, National Medical Research Center of Cardiology, Moscow 119992, Russia
Interests: lipidology; pathophysiology of atherosclerosis; preventive cardiology; prognosis after myocardial revascularization

Special Issue Information

Dear Colleagues,

Atherosclerotic cardiovascular diseases remain the main cause of mortality worldwide. Lipid disturbances are quite widespread and very diverse. Most of them are related to an increased risk of atherosclerosis burden but others could be the reason of hepatic and pancreatic diseases. It is my privilege to announce this special issue “Dyslipidemia and Related Diseases” and invite you to send original articles and reviews on these topics. This Special Issue is suggested will provide an overview of the most recent advances in the field of lipidology.

Potential topics include, but are not limited to:

Atherosclerotic;
Cardiovascular diseases;
Aortic valve stenosis;
The burden of lipoprotein(a);
Peripheral artery diseases;
Familial hypercholesterolemia ;
Severe hypertriglyceridemia;
Triglycerides and risk of pancreatitis.

I look forward to collaborating with you on this promising and important project.

Prof. Dr. Marat Ezhov
Guest Editor

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Keywords

cardiovascular diseases
peripheral artery disease
aortic stenosis
familial hypercholesterolemia
lipoprotein(a)
low-density lipoprotein cholesterol
hypertriglyceridemia
triglycerides
ischemic heart disease
dyslipidemia
pancreatitis

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Published Papers (6 papers)

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Research

14 pages, 1074 KiB

Open AccessArticle

Membrane Transporter of Serotonin and Hypercholesterolemia in Children

by Dinara Sadykova, Razina Nigmatullina, Karina Salakhova, Evgeniia Slastnikova, Liliya Galimova, Chulpan Khaliullina and Ildaria Valeeva

Int. J. Mol. Sci. 2024, 25(2), 767; https://doi.org/10.3390/ijms25020767 - 7 Jan 2024

Viewed by 1416

Abstract

The serotonin membrane transporter is one of the main mechanisms of plasma serotonin concentration regulation. Serotonin plays an important role in the pathogenesis of various cardiovascular diseases, stimulating the proliferation of smooth muscle cells, key cells in the process of hypertrophic vascular remodeling. Vascular remodeling is one of the leading prognostically unfavorable factors of atherosclerosis, the main manifestation of familial hypercholesterolemia. Familial hypercholesterolemia is one of the most common genetically determined lipid metabolism disorders and occurs in 1 in 313 people. The aim of our study was to investigate the levels of plasma and platelet serotonin, 5-hydroxyindoleacetic acid, and membrane transporter in a cross-sectional study of two pediatric groups, including patients with familial hypercholesterolemia and the control group, which consisted of apparently healthy children without cardiovascular diseases. The study involved 116 children aged 5 to 17 years old. The proportion of boys was 50% (58/116) and the average age of the children was 10.5 years (CI 2.8–18.1). The concentrations of serotonin in blood plasma and platelets and 5-hydroxyindoleacetic acid were higher in children with familial hypercholesterolemia than in the controls. The concentration of the serotonin transporter in platelets in healthy children, compared with the main group, was 1.3 times higher. A positive correlation was revealed between the level of serotonin (5-HT and PWV: ρ = 0.6, p < 0.001), its transporter (SERT and PWV: ρ = 0.5, p < 0.001), and the main indicators of arterial vascular stiffness. Our study revealed the relationship between high serotonin and SERT concentrations and markers of arterial stiffness. The results we obtained suggest the involvement of serotonin and SERT in the process of vascular remodeling in familial hypercholesterolemia in children. Full article

(This article belongs to the Special Issue Dyslipidemia and Related Diseases)

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13 pages, 412 KiB

Open AccessArticle

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults

by Olga Timoshchenko, Dinara Ivanoshchuk, Sergey Semaev, Pavel Orlov, Valentina Zorina and Elena Shakhtshneider

Int. J. Mol. Sci. 2024, 25(1), 314; https://doi.org/10.3390/ijms25010314 - 25 Dec 2023

Cited by 1 | Viewed by 1368

Abstract

The early detection and treatment of familial hypercholesterolemia (FH) in childhood and adolescence are critical for increasing life expectancy. The purpose of our study was to investigate blood lipid parameters, features of physical signs of cholesterol accumulation, and a personal and family history of premature cardiovascular diseases in children and young adults when FH is diagnosed. The analysis included patients under 18 years of age (n = 17) and young adults (18–44 years of age; n = 43) who received a diagnosis of FH according to clinical criteria. Targeted high-throughput sequencing was performed using a custom panel of 43 genes. A family history of cardiovascular diseases was more often noted in the group under 18 years of age than in young adults (p < 0.001). Among young adults, there was a high prevalence of typical signs of the disease such as tendon xanthomas and the early development of arterial atherosclerosis (p < 0.001). By molecular genetic testing, “pathogenic” and “probably pathogenic” variants were identified in the genes of 73.3% of patients under 18 years of age and 51.4% of patients 18–44 years of age. Thus, blood lipid screening tests combined with an accurate assessment of the family history is a highly relevant and inexpensive option for diagnosing FH in childhood. Molecular genetic testing allows us to make an accurate diagnosis and to improve adherence to treatment. Full article

(This article belongs to the Special Issue Dyslipidemia and Related Diseases)

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14 pages, 2597 KiB

Open AccessArticle

Decreased Serum Stromal Cell-Derived Factor-1 in Patients with Familial Hypercholesterolemia and Its Strong Correlation with Lipoprotein Subfractions

by Lilla Juhász, Hajnalka Lőrincz, Anita Szentpéteri, Nóra Tóth, Éva Varga, György Paragh and Mariann Harangi

Int. J. Mol. Sci. 2023, 24(20), 15308; https://doi.org/10.3390/ijms242015308 - 18 Oct 2023

Viewed by 1226

Abstract

Stromal cell-derived factor-1 (SDF-1) is a chemokine that exerts multifaceted roles in atherosclerosis. However, its association with hyperlipidemia is contradictory. To date, serum SDF-1 and its correlations with lipid fractions and subfractions in heterozygous familial hypercholesterolemia (HeFH) have not been investigated. Eighty-one untreated patients with HeFH and 32 healthy control subjects were enrolled in the study. Serum SDF-1, oxidized LDL (oxLDL) and myeloperoxidase (MPO) were determined by ELISA. Lipoprotein subfractions were detected by Lipoprint. We diagnosed FH using the Dutch Lipid Clinic Network criteria. Significantly lower serum SDF-1 was found in HeFH patients compared to healthy controls. Significant negative correlations were detected between serum total cholesterol, triglycerides, LDL-cholesterol (LDL-C), apolipoprotein B100 (ApoB100) and SDF-1. Furthermore, serum SDF-1 negatively correlated with VLDL and IDL, as well as large LDL and large and intermediate HDL subfractions, while there was a positive correlation between mean LDL-size, small HDL and SDF-1. SDF-1 negatively correlated with oxLDL and MPO. A backward stepwise multiple regression analysis showed that the best predictors of serum SDF-1 were VLDL and oxLDL. The strong correlation of SDF-1 with lipid fractions and subfractions highlights the potential common pathways of SDF-1 and lipoprotein metabolism, which supports the role of SDF-1 in atherogenesis. Full article

(This article belongs to the Special Issue Dyslipidemia and Related Diseases)

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14 pages, 645 KiB

Open AccessArticle

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

by Anastasia V. Blokhina, Alexandra I. Ershova, Anna V. Kiseleva, Evgeniia A. Sotnikova, Anastasia A. Zharikova, Marija Zaicenoka, Yuri V. Vyatkin, Vasily E. Ramensky, Vladimir A. Kutsenko, Svetlana A. Shalnova, Alexey N. Meshkov and Oxana M. Drapkina

Int. J. Mol. Sci. 2023, 24(17), 13159; https://doi.org/10.3390/ijms241713159 - 24 Aug 2023

Cited by 3 | Viewed by 1550

Abstract

Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account the distribution of apoB levels in the population. At the same time, a triglycerides cutoff ≥ 1.5 mmol/L may be a useful tool in identifying subjects with FD. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of APOE variants associated with autosomal dominant FD in a large research sample. Full article

(This article belongs to the Special Issue Dyslipidemia and Related Diseases)

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10 pages, 260 KiB

Open AccessArticle

Association of Common Variants of APOE, CETP, and the 9p21.3 Chromosomal Region with the Risk of Myocardial Infarction: A Prospective Study

by Sergey Semaev, Elena Shakhtshneider, Liliya Shcherbakova, Pavel Orlov, Dinara Ivanoshchuk, Sofia Malyutina, Valery Gafarov, Mikhail Voevoda and Yuliya Ragino

Int. J. Mol. Sci. 2023, 24(13), 10908; https://doi.org/10.3390/ijms241310908 - 30 Jun 2023

Cited by 5 | Viewed by 1204

Abstract

The individual risk of an unfavorable cardiovascular outcome is determined by genetic factors in addition to lifestyle factors. This study was aimed at analyzing possible associations of several genetic factors with the risk of myocardial infarction (MI). For our study, we selected genes that have been significantly associated with MI in meta-analyses: the chromosomal region 9p21.3, the CETP gene, and the APOE gene. In total, 2286 randomly selected patients were included. Rs708272 and rs429358 and rs7412 were analyzed using RT-PCR via the TaqMan principle, and rs1333049 vas analyzed via a commercial KASP assay. In our sample, the frequencies of alleles and genotypes were consistent with frequencies in comparable populations of Eastern and Western Europe. Allele C of rs1333049 was significantly associated with MI among males (p = 0.027) and in the whole study sample (p = 0.008). We also revealed a significant association of the ɛ2/ɛ4 genotype of APOE with MI among males (p < 0.0001) and in the whole study sample (p < 0.0001). Thus, among the tested polymorphisms, some genotypes of rs1333049 and rs429358 and rs7412 are the most strongly associated with MI and can be recommended for inclusion into a genetic risk score. Full article

(This article belongs to the Special Issue Dyslipidemia and Related Diseases)

11 pages, 1143 KiB

Open AccessArticle

Adipokine-Cytokine Profile in Patients with Unstable Atherosclerotic Plaques and Abdominal Obesity

by Evgeniia V. Garbuzova (Striukova), Victoriya S. Shramko, Elena V. Kashtanova, Yana V. Polonskaya, Ekaterina M. Stakhneva, Alexey V. Kurguzov, Ivan S. Murashov, Alexander M. Chernyavsky and Yuliya I. Ragino

Int. J. Mol. Sci. 2023, 24(10), 8937; https://doi.org/10.3390/ijms24108937 - 18 May 2023

Cited by 2 | Viewed by 1329

Abstract

The goal of the research was to study the levels of adipokines and their associations with unstable atherosclerotic plaques in patients with coronary atherosclerosis and abdominal obesity (AO). Methods: The study included 145 men aged 38–79 with atherosclerosis of the coronary arteries (CA) and stable angina pectoris II-III FC who were hospitalized for coronary bypass surgery (2011–2022). The final analysis included 116 patients. Notably, 70 men had stable plaques in the CA (of which 44.3% had AO), and 46 men had unstable plaques in the CA (of which 43.5% had AO). Adipocytokine levels were determined using multiplex analysis (Human Metabolic Hormone V3 panel). Results: In the subgroup of patients with unstable plaques, patients with AO had a GLP-1 level that was 1.5 times higher and a lipocalin-2 level that was 2.1 times lower, respectively. GLP-1 is direct, and lipocalin-2 is inversely associated with AO in patients with unstable plaques. Among patients with AO, the level of lipocalin-2 in patients with unstable plaques was 2.2 times lower than in patients with stable plaques in the CA. The level of lipocalin-2 was inversely associated with the presence of unstable atherosclerotic plaques in the CA. Conclusion: GLP-1 is directly associated with AO in patients with unstable atherosclerotic plaques. Lipocalin-2 is inversely associated with unstable atherosclerotic plaques in patients with AO. Full article

(This article belongs to the Special Issue Dyslipidemia and Related Diseases)

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