Some infants are more susceptible to potentially life-threatening breathing problems after birth, and rare, inherited DNA differences may explain why, according to research at Washington University School of Medicine in St. Louis.
The study is the first to identify a single gene ABCA3 that is associated with a significant number of cases of respiratory distress syndrome (RDS) in babies born at or near full term. RDS is the most common respiratory problem in newborns and the most common lung-related cause of death and disease among U.S. infants less than a year old.
Their findings will be published in the December 2012 issue of Pediatrics and are available online.
The research may lead to new diagnostic and therapeutic strategies for prevention and treatment to improve respiratory outcomes for babies.
"We found that mutations in ABCA3 account for about 10 percent of respiratory disease in babies born near their due dates," said Jennifer A. Wambach, MD, assistant professor of pediatrics and the study's lead author. "These are babies who we typically think should have mature lungs and breathe normally. While we have known for a while that RDS is a heritable disease, this is the first gene to account for a significant proportion of disease among infants that are full-term or nearly full-term."
RDS occurs when an infant's lungs don't produce enough surfactant, a liquid that coats the inside of the lungs and helps keep them open so the baby can breathe. If there isn't enough surfactant, an infant has to work hard to breathe and may suffer from a lack of oxygen. Premature infants are at especially high risk of RDS, as surfactant production increases as babies near term. However, 2 percent to 3 percent of term and near-term babies also develop RDS.
The researchers' findings suggest a range of possibilities, Wambach said. These include using the genetic knowledge to plan affected infants' births near hospi
|Contact: Elizabethe Holland Durando|
Washington University School of Medicine