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Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia 3.0
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Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia 3.0

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 (15 April 2024) | Viewed by 6738

Special Issue Editors

Dr. César Martín

E-Mail Website
Guest Editor
1. Department of Molecular Biophysics, Biofisika Institute, University of Basque Country and Consejo Superior de Investigaciones Científicas (UPV/EHU, CSIC), 48940 Leioa, Spain
2. Department of Biochemistry and Molecular Biology, Universidad del País Vasco UPV/EHU, 48080 Bilbao, Spain
Interests: familial hypercholesterolemia; low density lipoprotein receptor (LDLR); functional validation
Special Issues, Collections and Topics in MDPI journals
Dr. Asier Benito-Vicente

E-Mail Website
Guest Editor
1. Department of Molecular Biophysics, Biofisika Institute, University of Basque Country and Consejo Superior de Investigaciones Científicas (UPV/EHU, CSIC), 48940 Leioa, Spain
2. Department of Biochemistry and Molecular Biology, Universidad del País Vasco UPV/EHU, 48080 Bilbao, Spain
Interests: nutrition and dietetics; cardiology; diabetology; hypercholesterolemia; lipid metabolism; atherosclerosis; insulin resistance; metabolic diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is the continuation of our previous Special Issue, “Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity till New Therapeutic Approaches 2.0”.

Cardiovascular disease (CVD) remains the leading cause of death globally, taking an estimated 17.9 million lives each year. CVD is a general term that comprises many different types of conditions that affect the heart or blood vessels, which is generally associated with a build-up of fatty deposits inside the arteries (atherosclerosis) and an increased risk of blood clots, and can also be associated with damage to arteries in organs such as the brain, heart, kidneys, and eyes. The risk of CVD is affected by increased LDL cholesterol levels and is associated with several risk factors, including obesity, diabetes, smoking, hypertension, male sex, and age. Active engagement and more effective and appealing approaches to prevention, diagnosis, and treatment can be achieved by the medical and research community, which is important for furthering advances in clinical practice, training, and research in global health.

This Special Issue on “Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia 3.0” will collect papers that address various areas of the molecular aspects that cause disease, as well as research articles that point out the recent advances in the field.

The Editors of this Special Issue are also members of the committee of the MOL2NET Conference Series on Molecular, Biomedical & Computational Sciences and Engineering (ISSN: 2624-5078, MDPI SciForum, Basel, Switzerland, active since 2015). Consequently, this conference will perform post-publication indexing of the papers published in this Special Issue free of charge. This means that the conference will publish short post-publication abstracts of the papers published in the Special Issue. These post-publication abstracts will include a shortened title, reference and link to paper, and PDF with a cover of the paper, including the summary and details of all the co-authors. MOL2NET is a conference series with >10 inter-university transatlantic congresses and workshop series in the USA and Europe. The conference will also invite all participants in the conference series (>1000 authors) to read your paper and post the link to your paper on the conference social media with >10000 followers worldwide. These actions may notably increase the web visibility citations/readers of your paper. Information on the MOL2NET series can be found at the following link: https://sciforum.net/events?text=mol2net.

Dr. César Martín
Dr. Asier Benito-Vicente
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cardiovascular disease
  • atherosclerosis
  • familial hypercholesterolemia

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Published Papers (3 papers)

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Research

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22 pages, 4193 KiB  
Article
The Shear Stress–Regulated Expression of Glypican-4 in Endothelial Dysfunction In Vitro and Its Clinical Significance in Atherosclerosis
by Katharina Urschel, Karsten P. Hug, Hanxiao Zuo, Michael Büttner, Roman Furtmair, Constanze Kuehn, Florian M. Stumpfe, Balaz Botos, Stephan Achenbach, Yan Yuan, Barbara Dietel and Miyuki Tauchi
Int. J. Mol. Sci. 2023, 24(14), 11595; https://doi.org/10.3390/ijms241411595 - 18 Jul 2023
Viewed by 1326
Abstract
Retention of circulating lipoproteins by their interaction with extracellular matrix molecules has been suggested as an underlying mechanism for atherosclerosis. We investigated the role of glypican-4 (GPC4), a heparan sulfate (HS) proteoglycan, in the development of endothelial dysfunction and plaque progression; Expression of [...] Read more.
Retention of circulating lipoproteins by their interaction with extracellular matrix molecules has been suggested as an underlying mechanism for atherosclerosis. We investigated the role of glypican-4 (GPC4), a heparan sulfate (HS) proteoglycan, in the development of endothelial dysfunction and plaque progression; Expression of GPC4 and HS was investigated in human umbilical vein/artery endothelial cells (HUVECs/HUAECs) using flow cytometry, qPCR, and immunofluorescent staining. Leukocyte adhesion was determined in HUVECs in bifurcation chamber slides under dynamic flow. The association between the degree of inflammation and GPC4, HS, and syndecan-4 expressions was analyzed in human carotid plaques; GPC4 was expressed in HUVECs/HUAECs. In HUVECs, GPC4 protein expression was higher in laminar than in non-uniform shear stress regions after a 1-day or 10-day flow (p < 0.01 each). The HS expression was higher under laminar flow after a 1 day (p < 0.001). Monocytic THP-1 cell adhesion to HUVECs was facilitated by GPC4 knock-down (p < 0.001) without affecting adhesion molecule expression. GPC4 and HS expression was lower in more-inflamed than in less-inflamed plaque shoulders (p < 0.05, each), especially in vulnerable plaque sections; Reduced expression of GPC4 was associated with atherogenic conditions, suggesting the involvement of GPC4 in both early and advanced stages of atherosclerosis. Full article
(This article belongs to the Special Issue Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia 3.0)
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Review

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25 pages, 774 KiB  
Review
Unveiling Familial Hypercholesterolemia—Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy
by Piotr Fularski, Joanna Hajdys, Gabriela Majchrowicz, Magdalena Stabrawa, Ewelina Młynarska, Jacek Rysz and Beata Franczyk
Int. J. Mol. Sci. 2024, 25(3), 1637; https://doi.org/10.3390/ijms25031637 - 29 Jan 2024
Cited by 1 | Viewed by 2008
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this [...] Read more.
Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this disease is a high concentration of low-density lipoprotein cholesterol (LDL-C) in the blood. However, the level may significantly vary between the two mentioned types of FH, and it is decidedly higher in HoFH. A chronically elevated concentration of LDL-C in the plasma leads to the occurrence of certain abnormalities, such as xanthomas in the tendons and skin, as well as corneal arcus. Nevertheless, a significantly more severe phenomenon is leading to the premature onset of cardiovascular disease (CVD) and its clinical implications, such as cardiac events, stroke or vascular dementia, even at a relatively young age. Due to the danger posed by this medical condition, we have investigated how both non-pharmacological and selected pharmacological treatment impact the course of FH, thereby reducing or postponing the risk of clinical manifestations of CVD. The primary objective of this review is to provide a comprehensive summary of the current understanding of FH, the effectiveness of lipid-lowering therapy in FH and to explain the anatomopathological correlation between FH and premature CVD development, with its complications. Full article
(This article belongs to the Special Issue Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia 3.0)
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14 pages, 625 KiB  
Review
Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis
by Maria Donata Di Taranto and Giuliana Fortunato
Int. J. Mol. Sci. 2023, 24(4), 3224; https://doi.org/10.3390/ijms24043224 - 6 Feb 2023
Cited by 13 | Viewed by 2844
Abstract
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR). Two forms of the disease are possible, heterozygous (HeFH) and homozygous (HoFH), caused by one or two pathogenic [...] Read more.
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR). Two forms of the disease are possible, heterozygous (HeFH) and homozygous (HoFH), caused by one or two pathogenic variants, respectively, in the three main genes that are responsible for the autosomal dominant disease: LDLR, APOB and PCSK9 genes. The HeFH is the most common genetic disease in humans, being the prevalence about 1:300. Variants in the LDLRAP1 gene causes FH with a recessive inheritance and a specific APOE variant was described as causative of FH, contributing to increase FH genetic heterogeneity. In addition, variants in genes causing other dyslipidemias showing phenotypes overlapping with FH may mimic FH in patients without causative variants (FH-phenocopies; ABCG5, ABCG8, CYP27A1 and LIPA genes) or act as phenotype modifiers in patients with a pathogenic variant in a causative gene. The presence of several common variants was also considered a genetic basis of FH and several polygenic risk scores (PRS) have been described. The presence of a variant in modifier genes or high PRS in HeFH further exacerbates the phenotype, partially justifying its variability among patients. This review aims to report the updates on the genetic and molecular bases of FH with their implication for molecular diagnosis. Full article
(This article belongs to the Special Issue Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia 3.0)
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