For families of children with rare diseases, the search for answers can be lonely, desperate and frustrating. Such is the case with pulmonary hypertension.
Now families are one step closer to answers, thanks to a genetic study designed by Ripla Arora, associate professor in the MSU College of Human Medicine’s Department of Obstetrics, Gynecology and Reproductive Biology.
Arora and her team of MSU researchers partnered with a team from the Stanford University School of Medicine to examine the role of the second most-common genetic cause of pediatric PH — loss of function of the TBX4 gene.
The researchers found that, without the genetic instruction for proteins, excess smooth muscle developed around large and small vessels, contributing to high blood pressure in the lungs.
The study provides a foundation of scientific knowledge for discovering how and why genetic mutations can cause illnesses so treatments and cures can eventually be developed.