Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
3.6
2.6
Journals
Medicina
Special Issues
Medical Genetics in Cardiovascular Disease
share announcement

Medical Genetics in Cardiovascular Disease

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (31 August 2023) | Viewed by 2786

Special Issue Editors

Dr. Kyriakos Spiliopoulos

E-Mail Website
Guest Editor
Department of Cardiothoracic Surgery, University of Thessaly, Larissa, Greece
Interests: cardiothoracic surgery; coronary artery disease; heart valve disease; endocarditis; aortic aneurysm
Special Issues, Collections and Topics in MDPI journals
Dr. Dimitrios E. Magouliotis

E-Mail Website
Guest Editor
Department of Cardiothoracic Surgery/Department of Surgery, University of Thessaly, Biopolis, 41 110 Larissa, Greece
Interests: cardio-thoracic surgery; surgical oncology; bariatric surgery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The fields of cardiology and cardiac surgery have seen tremendous growth in recent years. In this context, the staggering technological advancements in genetics and genomics have enabled the integration of new techniques in all aspects of research on cardiac diseases. From whole genome sequencing to transcriptomics, new technologies adopted from the bench to the bedside have led to new developments in the early diagnosis and precision treatment of complex cardiac diseases, thus providing enhanced outcomes, quality of services, and quality of life for our patients. In this ever-changing landscape, we call all physicians and surgeons with interest in cardiac diseases, genetics, and bioinformatics to submit their work to this Special Issue. Our goal is to provide readers with all cutting edge and up-to-date advances in the field of genetics and cardiac disease.

Dr. Kyriakos Spiliopoulos
Dr. Dimitrios E. Magouliotis
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. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). 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

  • cardiac disease
  • genetics
  • genomics
  • cardiac surgery
  • heart disease

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

19 pages, 13409 KiB  
Article
Structural Characteristics of PON1 with Leu55Met and Gln192Arg Variants Influencing Oxidative-Stress-Related Diseases: An Integrated Molecular Modeling and Dynamics Study
by Sudhan M., Janakiraman V., Sheikh F. Ahmad, Sabry M. Attia, Talha Bin Emran, Rajesh B. Patil and Shiek S. S. J. Ahmed
Medicina 2023, 59(12), 2060; https://doi.org/10.3390/medicina59122060 - 22 Nov 2023
Viewed by 1294
Abstract
Background and Objectives: PON1 is a multi-functional antioxidant protein that hydrolyzes a variety of endogenous and exogenous substrates in the human system. Growing evidence suggests that the Leu55Met and Gln192Arg substitutions alter PON1 activity and are linked with a variety of oxidative-stress-related [...] Read more.
Background and Objectives: PON1 is a multi-functional antioxidant protein that hydrolyzes a variety of endogenous and exogenous substrates in the human system. Growing evidence suggests that the Leu55Met and Gln192Arg substitutions alter PON1 activity and are linked with a variety of oxidative-stress-related diseases. Materials and Methods: We implemented structural modeling and molecular dynamics (MD) simulation along with essential dynamics of PON1 and molecular docking with their endogenous (n = 4) and exogenous (n = 6) substrates to gain insights into conformational changes and binding affinity in order to characterize the specific functional ramifications of PON1 variants. Results: The Leu55Met variation had a higher root mean square deviation (0.249 nm) than the wild type (0.216 nm) and Gln192Arg (0.202 nm), implying increased protein flexibility. Furthermore, the essential dynamics analysis confirms the structural change in PON1 with Leu55Met vs. Gln192Arg and wild type. Additionally, PON1 with Leu55Met causes local conformational alterations at the substrate binding site, leading to changes in binding affinity with their substrates. Conclusions: Our findings highlight the structural consequences of the variants, which would increase understanding of the role of PON1 in the pathogenesis of oxidative-stress-related diseases, as well as the management of endogenous and exogenous chemicals in the treatment of diseases. Full article
(This article belongs to the Special Issue Medical Genetics in Cardiovascular Disease)
►▼ Show Figures

Figure 1

15 pages, 955 KiB  
Article
Association of Genetic Polymorphisms with Abdominal Aortic Aneurysm in the Processes of Apoptosis, Inflammation, and Cholesterol Metabolism
by Nyityasmono Tri Nugroho, Monika Herten, Giovanni F. Torsello, Nani Osada, Elena Marchiori, Sonja Sielker and Giovanni B. Torsello
Medicina 2023, 59(10), 1844; https://doi.org/10.3390/medicina59101844 - 17 Oct 2023
Viewed by 1053
Abstract
Background and Objectives: This study aims to identify the minor allele of the single nucleotide polymorphisms (SNPs) DAB2IP rs7025486, IL6R rs2228145, CDKN2BAS rs10757278, LPA rs3798220, LRP1 rs1466535, and SORT1 rs599839 in order to assess the risk of abdominal aortic aneurysm (AAA) formation [...] Read more.
Background and Objectives: This study aims to identify the minor allele of the single nucleotide polymorphisms (SNPs) DAB2IP rs7025486, IL6R rs2228145, CDKN2BAS rs10757278, LPA rs3798220, LRP1 rs1466535, and SORT1 rs599839 in order to assess the risk of abdominal aortic aneurysm (AAA) formation and define the linkage among these SNPs. Materials and Methods: A case-control study with AAA patients (AAA group) and non-AAA controls (control group) was carried out in a study population. DNA was isolated from whole blood samples; the SNPs were amplified using PCR and sequenced. Results: In the AAA group of 148 patients, 87.2% of the patients were male, 64.2% had a history of smoking, and 18.2% had relatives with AAA. The mean ± SD of age, BMI, and aneurysmal diameter in the AAA group were 74.8 ± 8.3 years, 27.6 ± 4.6 kg/m2, and 56.2 ± 11.8 mm, respectively. In comparison with 50 non-AAA patients, there was a significantly elevated presence of the SNPs DAB2IP rs7025486[A], CDKN2BAS rs10757278[G], and SORT1 rs599839[G] in the AAA group (p-values 0.040, 0.024, 0.035, respectively), while LPA rs3798220[C] was significantly higher in the control group (p = 0.049). A haplotype investigation showed that the SNPs DAB2IP, CDKN2BAS, and IL6R rs2228145[C] were significantly elevated in the AAA group (p = 0.037, 0.037, and 0.046) with minor allele frequencies (MAF) of 25.5%, 10.6%, and 15.4%, respectively. Only DAB2IP and CDKN2BAS showed significantly higher occurrences of a mutation (p = 0.028 and 0.047). Except for LPA, all SNPs were associated with a large aortic diameter in AAA (p < 0.001). Linkage disequilibrium detection showed that LPA to DAB2IP, to IL6R, to CDKN2BAS, and to LRP1 rs1466535[T] had D’ values of 70.9%, 80.4%, 100%, and 100%, respectively. IL6R to LRP1 and to SORT1 had values for the coefficient of determination (r2) of 3.9% and 2.2%, respectively. Conclusions: In the investigated study population, the SNPs CDKN2BAS rs10757278, LPA rs3798220, SORT1 rs599839, DAB2IP rs7025486, and IL6R rs2228145 were associated with the development of abdominal aortic aneurysms. Individuals with risk factors for atherosclerosis and/or a family history of AAA should be evaluated using genetic analysis. Full article
(This article belongs to the Special Issue Medical Genetics in Cardiovascular Disease)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop