Description
Title: Pulmonary Arterial Hypertension and Channelopathy Genes
Abstract: A rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality is pulmonary arterial hypertension (PAH). Although there are no available cures, current therapies aim to reduce pulmonary vascular resistance and the underlying pathogenetic mechanisms are heterogeneous. It is possible to identify causal genetic variants in 43% of children and 13% of adults with PAH. Clinical management of PAH, including multimodal medical treatment, surgical intervention and transplantation decisions, screening for associated conditions, and risk stratification for family members, can be influenced by genetic diagnoses. Multiple PAH cohorts have confirmed the roles of rare variants in the channelopathy genes ABCC8, ATP13A3, and KCNK3, which collectively account for 2.7% of PAH cases. Variants in ABCC8 and KCNK3 linked to PAH have been shown to completely or partially abolish their respective functions. Knowing the mechanisms underlying channel mutations may open up opportunities for the development of novel therapeutics and PAH biomarkers for patients with hereditary PAH, as well as potentially more broadly for all patients with PAH. Channels can be excellent drug targets.
Keywords: channelopathy; genetics; lung disease; pulmonary arterial hypertension
Paper Quality: SCOPUS / Web of Science Level Research Paper
Subject: Biomolecules
Writer Experience: 20+ Years
Plagiarism Report: Turnitin Plagiarism Report will be less than 10%
Restriction: Only one author may purchase a single paper. The paper will then indicate that it is out of stock.
What will I get after the purchase?
A turnitin plagiarism report of less than 10% in a pdf file and a full research paper in a word document.
In case you have any questions related to this research paper, please feel free to call/ WhatsApp on +919726999915
Reviews
There are no reviews yet.