Scientists Discover Gene Required To Develop Normal Breathing Finding May Lead To Understanding Of Breathing Disorders, Sids

Scientists have identified a gene required for development of normal breathing, which could lead to better understanding of respiratory problems such as sleep apnea and sudden infant death syndrome.

Researchers at Case Western Reserve University studied genetically altered mice which lacked the gene for a molecule called brain-derived neurotrophic factor, needed for nerve cell growth and health.

They found that these mice lacked a group of nerve cells needed for breathing and had severely abnormal breathing, particularly an inability to sense changes in oxygen levels. And they died within two or three weeks of birth, which was probably linked to the breathing difficulties, the researchers found.

The study, funded by the National Institutes of Health, was led by David Katz, associate professor of neurosciences at Case Western Reserve. The results were published in the Sept. 1 issue of the Journal of Neuroscience.

Katz said the study is among the first to show that the gene, which controls development of the nervous system also is required for the development of breathing.

The next step is to determine whether providing the gene for brain-derived neurotrophic factor will help an animal born with poor breathing control, Katz said.

“We now have in our hands one of the molecular building blocks necessary to get normal breathing behavior after birth,” Katz said.

Katz’s work is the first of many studies that must be done before any conclusions can be drawn, cautioned Dr. Cheryl Richmond, a researcher with the American SIDS Institute. The Atlanta-based nonprofit group conducts research and works with parents of children who have died of SIDS.

“This is a very exciting thing,” she said. “Whether or not the study is going to have any implications related to our understanding of SIDS is yet to be seen.”

Katz hopes his findings will lay groundwork that ultimately could yield important information about SIDS, adult sleep apnea and respiratory problems in infants.