The Genetic Basis of High-Altitude Pulmonary Hypertension
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (28 February 2021) | Viewed by 219
Special Issue Editor
Interests: genetics of rare diseases; next-generation sequencing; cell-free fetal DNA; intellectual disability; neurodevelopmental diseases
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Pulmonary arterial hypertension (PAH) is a rare disease characterized by an abnormal increase in the mean pressure of the pulmonary artery (≥25 mm Hg at rest), leading to a progressive increase in pulmonary vascular resistance and, ultimately, at death due to right ventricular failure. More than 80% of inheritable PAH cases are caused by mutations in the BMPR2 gene. In contrast, high altitude pulmonary hypertension (HAPH) only develops acutely at high altitude, affecting individuals residing at altitudes equal to or greater than 2,500 meters. Numerous pathogenic variables may be involved in the development of the disease, but since HAPH affects only some people who live at high altitudes, genetic factors may play an important role in its pathogenesis. Unlike HAP, mutations have not yet been identified in individuals with HAPH, although recent studies have identified potential protective genetic variants in non-HAPH subjects. Besides genetic variants, other mechanisms such as epigenetic mechanisms or microRNA expression could also play a role in HAPH susceptibility.
This Special Issue will focus on current knowledge and the latest developments regarding the genetic underpinnings of high altitude pulmonary hypertension.
Dr. Irene Madrigal
Guest Editor
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. Genes 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 2600 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
- pulmonary arterial hypertension
- high-altitude pulmonary hypertension
- next generation sequencing
- genomic susceptibility
- transcriptomic
