Penn Researchers Determine Mechanism by Which Lung Function is Regulated in Rare Disease Known As Birt-Hogg-Dube Syndrome
Perelman School of Medicine at the University of PennsylvaniaResearchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. Folliculin’s absence or mutated state has a cascading effect that leads to deteriorated lung integrity and an impairment of lung function, as reported in their findings in the current issue of Cell Reports.