Johns Hopkins researchers find gene tied to CF secondary complication

Variations of the methionine sulfoxide reductase (MSRA) gene appear to affect whether newborns get a cystic fibrosis-related intestinal blockage known as meconium ileus, scientists have found.

Details are published in PLoS Genetics. Credit Johns Hopkins researchers, along with colleagues in Toronto, with making the discovery regarding the condition. It's a very serious complication that affects 15% of newborns with cystic fibrosis, a genetic disorder that can affect the lungs and digestive system. Unlike healthy newborns, who have their first bowel movement with a substance known as meconium, babies with the obstruction need immediate surgery or enema, or they die, the researchers note.

Why does this matter? It's true, the finding is somewhat abstract, but the discovery has long-term implications. By identifying the genes that contribute to the condition, doctors and clinicians, the researchers argue, could learn more precisely how intestines function. What's more, this has a broader impact because doctors will eventually identify genes in a similar fashion that contribute to complications with other disorders, they note. It's another step toward personalized medicine. Eventually a test will be used to identify contributing genes, which can also lead toward more targeted treatments.

Scientists conducted their study by looking at the DNA of 133 families who had at least two children with cystic fibrosis, one of which had the bowel complication. They found variations of the MSRA gene more often in kids who had meconium ileus.

Separately, they looked at three variations of mice engineered to have cystic fibrosis and were also more likely to die from intestinal obstruction. One variation had both MSRA genes as they are supposed to appear, one had only one intact, and the third variation didn't have any of them. Mice with fewer copies of intact MSRA genes tended to live longer and didn't get the bowel obstruction, the researchers said.

- here's the release
- read the study