In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News
In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News Posted: 30 Sep 2019 06:00 AM PDT Patients with pulmonary arterial hypertension (PAH) who carry a specific mutation in the RNF213 gene have poor clinical outcomes and worse response to combination treatments, according to a study from Japan. The study, " Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension ," was published in The Journal of Heart and Lung Transplantation . A 2018 study found that approximately 10% of the patients with idiopathic PAH have a specific variant in the RNF213 gene — rs112735431, or p.Arg4810Lys — consisting of an amino acid substitution of arginine to lysine in the RNF213 protein. This gene alteration has already been a...