Epigenetic regulation in cardiovascular disease: mechanisms and advances in clinical trials
pulmonary hypertension right heart failure :: Article Creator SMAD5 Is A Potential Novel Gene In Patients With Familial PAH Among patients with familial pulmonary arterial hypertension (PAH), SMAD5 appears to be a novel gene that warrants consideration for genetic testing, according to findings from a study conducted in Germany and published in Clinical Science (London). Individuals with the rare disorder PAH experience elevated pulmonary vascular resistance and right ventricular hypertrophy, which eventually lead to right heart failure. Of note, genetic mutations in 18 or fewer recognized PAH genes have been shown to be associated with abnormal proliferation and apoptosis of endothelial cells, pulmonary vascular smooth muscle cells, and fibroblasts. This, in turn, causes thickening of the pulmonary arterial walls. Approximately 85% of patients with familial PAH and 15% of those with idiopathic PAH present with a disease-associated mutation. The...