Mutation New to PAH Onset is Identified and Remedied in the Laboratory

Author: Maureen Newman
Date Published: July-2014
Source: Pulmonary Hypertension News

Putting an end to one familial case of pulmonary arterial hypertension (PAH) without a known cause, a recent study published in New England Journal of Medicine investigated the mutation responsible for one family’s idiopathic PAH. Lead authors Lijang Ma, MD, PhD, and Danilo Roman-Campos, PhD, principal investigator Wendy Chung, MD, PhD, and fellow colleagues at Columbia University Medical Center and other institutions reported a novel mutation responsible for a channelopathy that was then remedied experimentally in cells through pharmacologic manipulation.