A gene change may explain why some newborn babies struggle for breath, and could lead to genetic biomarker-based tests to warn of the risk. Neonatal respiratory distress syndrome (RDS) is a breathing problem linked with underdeveloped lungs and lack of surfactant, a slippery, protective coating in the inside of the lungs that helps to keep the airways open.
Neonatal respiratory distress syndrome, which is frightening for the parents and the baby, causes shallow and rapid breathing and a lack of oxygen, giving a blue tinge to the skin. It can begin within minutes of birth and while it is more often seen in premature babies, around 2% to 3% of full-term and near-term babies also develop respiratory distress syndrome.
The researchers, from Washington University School of Medicine and Johns Hopkins University School of Medicine, looked at 5 mutations already known to be important in normal breathing immediately after birth in more than 1,500 newborns of European or African descent who were born at full or near term and were healthy or had respiratory distress syndrome. They linked a single inherited mutation in the ABCA3 gene with respiratory distress syndrome in babies of European descent, which could be responsible for 10% of cases. The results are published in Pediatrics.
"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," says Jennifer A. Wambach of Washington University School of Medicine.
Neonatal respiratory distress syndrome is the most common lung-related cause of death and disease among U.S. infants less than a year old. A marker could support diagnosis and help doctors to know which babies to monitor most closely after birth, or be used as a pre-birth diagnostic, ensuring that the affected infants can be born in or near units that can offer the best support. The gene marker could also be a target to develop treatments or preventive measures that could improve quality of life for babies and their families and even save lives.
According to Wambach, the next step is to find additional genes that cause neonatal respiratory distress syndrome, and to understand more about the biology behind these mutations.