Gene mutations associated with respiratory distress syndrome in babies

Gene mutations associated with respiratory distress syndrome in babies

A study conducted by researchers at Washington University School of Medicine in St.. Louis, revealed that ABCA3 gene mutations are responsible for approximately 10% of cases of distress syndrome (RDS). The study was published in the December issue of Pediatrics, and is the first that demonstrates that a single gene is associated with an important number of cases of RDS. Researchers’ findings may provide the basis for new medical therapies to help infants with RDS.

RDS is a life-threatening respiratory disease that occurs especially in premature infants. The disease occurs due to insufficient amount of surfactant, a substance essential in the process of breathing. RDS is the main cause of death in infants in the first month of life. Premature babies and those born to mothers with diabetes are at risk of developing RDS at birth, even though it can occur in children born at term, but these cases are rare. RDS is more severe in new-born with patent dustus arteriosus, a congenital disorder in which the ductus does not close after birth.

Respiratory Distress Syndrome in Babies

Main symptoms and signs of the disease are related to respiratory effort: cyanosis, a bluish skin color, tachycardia, nasal flaring, chest wall recession etc. RDS can be prevented by antenatal glucorticoid adminstration. After birth, oxygen and surfactant are helpful for the management of RDS.  Untreated, the disease progresses to respiratory failure and respiratory arrest, and as complications intracranial hemorrhage can occur.

Jennifer A. Wambach, MD, assistant professor of pediatrics and the study’s lead author, said that ABCA3 gene mutations are responsible for 10% of cases of RDS in premature infants or infants born near term. She added that these children should normally have well-developed lungs and breathe normally. Wambach said she hopes to find other genes associated with RDS that can help identify children at risk.

A team of researchers, including and Aaron Hamvas, MD, and F. Sessions Cole, MD, analyzed five genes involved in surfactant metabolism. DNA samples taken from 500 infants of African and European descent, with and without respiratory distress were assessed. To check the results of the study, researchers analyzed 48 infants with severe RDS plus another 1066 babies to see how common  ABCA3 gene mutations were in the population. In this way it was observed that babies of European descent were more likely to have a single gene mutation ABCA3 than children without RDS. The same was found for babies of African descent or for those with severe RDS, even though for the first the difference was not statistically significant.