Bioinformatics Researchers Identify Twenty Potentially Pathogenic Mutations in Gene Associated with Pulmonary Arterial Hypertension
Researchers at HSE University, in collaboration with colleagues from other Russian institutions, have identified which mutations in the ACVRL1 gene may be pathogenic in patients with pulmonary arterial hypertension. The team modelled how genetic variations affect ATP binding to the protein—a process essential for transmitting signals required for normal vascular function. The researchers found that 20 of the 32 variants studied can disrupt signal transmission and are therefore likely to cause disease. The findings have been published in the Journal of Structural Biology.
17 June