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Special Issue "Pulmonary Arterial Hypertension: From Genetics to Epigenetics"

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 September 2021).

Special Issue Editors

Dr. Letizia Pitto
E-Mail Website
Guest Editor
Institute of Clinical Physiology, National Council Research, 56124 Pisa, Italy
Interests: epigenetic; noncoding RNAs; RNA sequencing; gene expression; cardiovascular disease; congenital cardiac disease; animal model; zebrafish
Dr. Giuseppina Nicolini
E-Mail
Guest Editor
CNR Intitute of Clinical Physiology, Via G.Moruzzi 1, 56124 Pisa, Italy
Interests: Post-ischemic cardiac remodeling; Pre-clinical animal model; Signaling pathways; miRNA/gene regulatory networks

Special Issue Information

Dear Colleagues,

Pulmonary arterial hypertension (PAH) is a serious cardiopulmonary–vascular condition with no readily available cure. It is characterized by progressive angioproliferative remodeling of the precapillary vessel, resulting in vasoconstriction and a significant increase in pulmonary vascular resistance, which ultimately leads to right ventricle failure and premature death. The obliterative remodeling is sustained by dysfunctions of the lung vessel cells that release mitogens and vasoconstrictors with an imbalance of cell proliferation versus cell death. The etiology of PAH is complex and may be mediated by the interplay of a predisposed genetic background, epigenetic state and injurious events. Most of the genetic mutations associated with PAH have been identified in genes of the TGF beta superfamily that code for receptors involved in the regulation of cell proliferation and endothelial to mesenchimal transition; the most characterized and representative gene in this family is the Bone Morphogenetic Protein Receptor 2 (BMPR2). Other genes identified as involved in proliferative vasoconstrictive signaling pathways are Caveolin 1, Endoglin, Translation Initiation Factor 2 Alpha Kinase 4, Kruppel Like Factor 2, Potassium Two Pore Domain Channel Subfamily K Member 3 and others. On the epigenetic side, alterations in the DNA methylation state at key gene loci, as well as modifications of the histone H1 and histone deacetylase levels, have been shown to play important roles in the hyperproliferative and veno-occlusive processes. Moreover, dysregulation of microRNA networks or mutations in microRNA-targeted sequences represent other important epigenetic players in the pathogenesis of PAH. Epigenetic mechanisms might explain the great variability in susceptibility to environmental cues in PAH progression and severity and might be relevant to the female predisposition to PAH and the incomplete penetrance of BMPR2 mutations in familial PAH. Overall, these observations clearly indicate that a global perspective of the molecular network underlying the PAH phenotype is necessary to design novel therapeutic strategies.

This Special Issue of IJMS, “Pulmonary arterial hypertension: from genetics to epigenetics”, will cover a selection of recent research topics related to advances in the comprehension of the genetic and epigenetic mechanisms involved in the establishment of PAH. Up-to-date review articles, commentaries and experimental papers are all welcome.

Dr. Letizia Pitto
Dr. Giuseppina Nicolini
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 papers will be 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.

Published Papers

There is no accepted submissions to this special issue at this moment.
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