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Genetic Insights into Cardiovascular Diseases

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 4546

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Special Issue Editors

Dr. Manuel Hermida-Prieto

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Guest Editor

Grupo de Investigación en Cardiología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC-SERGAS), GRINCAR-Universidade da Coruña (UDC), 15006 A Coruña, Spain
Interests: genetics; myocardiopathies; myocardial infarction; sudden death; microRNA; biomarkers
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Dr. Lucía Núñez

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Guest Editor

Departamento de Ciencias de la Salud, GRINCAR Research Group, Universidade da Coruña, 15403 A Coruña, Spain
Interests: genes; sudden death; electrophysiology; myocardial infarction
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Arrithmias, cardiomyophaties, chanelophaties, but also, amyloidosis, heart valve disease, high cholesterol, and pulmonary hipertension; the list of cardiac disease conditions with a stablished genetic background has been expanding. Moreover, technology allows us to have the exome of any human being in a short time and at reasonable cost.

But, what can we do with all that information? What do we really know about genetics of cardiovascular disease? It seems the questions we do need to answer, an in particular for the clinician, overgrows the genetic data we can get.

This special issue tries to aproach the the most important aspects of the current knowledge of the genetics of cardiovascular diseases.

We propose a combination of original articles where clinical and genetic data from patients affected by the main cardiovascular pathologies are examined and, review articles where the state of the art of the current knowledge on the genetic basis of these pathologies is presented.

Dr. Manuel Hermida-Prieto
Dr. Lucía Núñez
Guest Editors

Manuscript Submission Information

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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.

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Keywords

cardiovascular diseases
heart disease
channelopathy
cardiomyopathy
sudden death
genetic diagnoses
gene therapy
rare mutations
common variants

Published Papers (4 papers)

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Research

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12 pages, 542 KiB

Open AccessArticle

Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction

by Roberto Lorente-Bermúdez, Ricardo Pan-Lizcano, Lucía Núñez, Domingo López-Vázquez, Fernando Rebollal-Leal, José Manuel Vázquez-Rodríguez and Manuel Hermida-Prieto

Int. J. Mol. Sci. 2024, 25(5), 2548; https://doi.org/10.3390/ijms25052548 - 22 Feb 2024

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Abstract

Sudden cardiac death due to ventricular fibrillation (VF) during ST-elevation acute myocardial infarction (STEAMI) significantly contributes to cardiovascular-related deaths. Although VF has been linked to genetic factors, variations in copy number variation (CNV), a significant source of genetic variation, have remained largely unexplored in this context. To address this knowledge gap, this study performed whole exome sequencing analysis on a cohort of 39 patients with STEAMI who experienced VF, aiming to elucidate the role of CNVs in this pathology. The analysis revealed CNVs in the form of duplications in the PARP2 and TTC5 genes as well as CNVs in the form of deletions in the MUC15 and PPP6R1 genes, which could potentially serve as risk indicators for VF during STEAMI. The analysis also underscores notable CNVs with an average gene copy number equal to or greater than four in DEFB134, FCGR2C, GREM1, PARM1, SCG5, and UNC79 genes. These findings provide further insight into the role of CNVs in VF in the context of STEAMI. Full article

(This article belongs to the Special Issue Genetic Insights into Cardiovascular Diseases)

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14 pages, 1020 KiB

Open AccessArticle

A Transcriptomic Analysis of Smoking-Induced Gene Expression Alterations in Coronary Artery Disease Patients

by Mohammed Merzah, Szilárd Póliska, László Balogh, János Sándor, István Szász, Shewaye Natae and Szilvia Fiatal

Int. J. Mol. Sci. 2023, 24(18), 13920; https://doi.org/10.3390/ijms241813920 - 10 Sep 2023

Viewed by 943

Abstract

Smoking is a well established risk factor for coronary artery disease (CAD). Despite this, there have been no previous studies investigating the effects of smoking on blood gene expression in CAD patients. This single-centre cross-sectional study was designed with clearly defined inclusion criteria to address this gap. We conducted a high-throughput approach using next generation sequencing analysis with a single-end sequencing protocol and a read length of 75-cycles. Sixty-one patients with a median age of 67 years (range: 28–88 years) were recruited, and only 44 subjects were included for further analyses. Our investigation revealed 120 differentially expressed genes (DEGs) between smokers and nonsmokers, with a fold change (FC) of ≥1.5 and a p-value < 0.05. Among these DEGs, 15 were upregulated and 105 were downregulated. Notably, when applying a more stringent adjusted FC ≥ 2.0, 31 DEGs (5 upregulated, annotated to immune response pathways, and 26 downregulated, involving oxygen and haem binding or activity, with FDR ≤ 0.03) remained statistically significant at an alpha level of <0.05. Our results illuminate the molecular mechanisms underlying CAD, fortifying existing epidemiological evidence. Of particular interest is the unexplored overexpression of RCAN3, TRAV4, and JCHAIN genes, which may hold promising implications for the involvement of these genes in CAD among smokers. Full article

(This article belongs to the Special Issue Genetic Insights into Cardiovascular Diseases)

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8 pages, 940 KiB

Open AccessArticle

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

by Laura Torres-Juan, Yolanda Rico, Elena Fortuny, Jaume Pons, Rafael Ramos, Fernando Santos-Simarro, Víctor Asensio, Iciar Martinez and Damian Heine-Suñer

Int. J. Mol. Sci. 2023, 24(10), 8644; https://doi.org/10.3390/ijms24108644 - 12 May 2023

Cited by 2 | Viewed by 1528

Abstract

Thoracic aortic aneurysms (TAA) consist of abnormal dilation or the widening of a portion of the ascending aorta, due to weakness or destructuring of the walls of the vessel and are potentially lethal. The congenital bicuspid aortic valve (BAV) is considered a risk factor for the development of TAA because asymmetric blood flow through the bicuspid aortic valve detrimentally influences the wall of the ascending aorta. NOTCH1 mutations have been associated with non-syndromic TAAs as a consequence of BAV, but little is known regarding its haploinsufficiency and its relationship with connective tissue abnormalities. We report two cases in which there is clear evidence that alterations in the NOTCH1 gene are the cause of TAA in the absence of BAV. On the one hand, we describe a 117 Kb deletion that includes a large part of the NOTCH1 gene and no other coding genes, suggesting that haploinsufficiency can be considered a pathogenic mechanism for this gene associated with TAA. In addition, we describe two brothers who carry two variants, one in the NOTCH1 gene and another in the MIB1 gene, corroborating the involvement of different genes of the Notch pathway in aortic pathology. Full article

(This article belongs to the Special Issue Genetic Insights into Cardiovascular Diseases)

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Review

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27 pages, 2029 KiB

Open AccessReview

The Dysfunction of Ca²⁺ Channels in Hereditary and Chronic Human Heart Diseases and Experimental Animal Models

by Irina Shemarova

Int. J. Mol. Sci. 2023, 24(21), 15682; https://doi.org/10.3390/ijms242115682 - 27 Oct 2023

Cited by 1 | Viewed by 1245

Abstract

Chronic heart diseases, such as coronary heart disease, heart failure, secondary arterial hypertension, and dilated and hypertrophic cardiomyopathies, are widespread and have a fairly high incidence of mortality and disability. Most of these diseases are characterized by cardiac arrhythmias, conduction, and contractility disorders. Additionally, interruption of the electrical activity of the heart, the appearance of extensive ectopic foci, and heart failure are all symptoms of a number of severe hereditary diseases. The molecular mechanisms leading to the development of heart diseases are associated with impaired permeability and excitability of cell membranes and are mainly caused by the dysfunction of cardiac Ca²⁺ channels. Over the past 50 years, more than 100 varieties of ion channels have been found in the cardiovascular cells. The relationship between the activity of these channels and cardiac pathology, as well as the general cellular biological function, has been intensively studied on several cell types and experimental animal models in vivo and in situ. In this review, I discuss the origin of genetic Ca²⁺ channelopathies of L- and T-type voltage-gated calcium channels in humans and the role of the non-genetic dysfunctions of Ca²⁺ channels of various types: L-, R-, and T-type voltage-gated calcium channels, RyR2, including Ca²⁺ permeable nonselective cation hyperpolarization-activated cyclic nucleotide-gated (HCN), and transient receptor potential (TRP) channels, in the development of cardiac pathology in humans, as well as various aspects of promising experimental studies of the dysfunctions of these channels performed on animal models or in vitro. Full article

(This article belongs to the Special Issue Genetic Insights into Cardiovascular Diseases)

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