Researchers at UGA have discovered a specific gene may play a major role in the development of a life-threatening birth defect.
Congenital diaphragmatic hernia is a defect that affects approximately one out of every 3,000 live births. The hallmark of CDH is a rupture of the diaphragm that allows organs found in the lower abdomen, such as the liver, spleen and intestines, to push their way into the chest cavity. The invading organs crowd the limited space and can lead to abnormal lung development or poor lung function, which, depending on the severity of the condition, can cause disability or death.
In a paper published recently in the Journal of Clinical Investigation, UGA researchers, along with colleagues from the Rensselaer Polytechnic Institute and the University of California at San Diego, demonstrated for the first time that a gene known as Ndst1 plays a significant role in the proper development of the diaphragm, and abnormal expression of the gene could lead to CDH.
“Scientists really don’t know what causes CDH, so finding new clues like this is very important,” said Lianchun Wang, an associate professor of biochemistry and molecular biology in the Franklin College of Arts and Sciences. “Our laboratory tests with mice give us some good clues as to what causes this defect and what we might be able to do about it in the future.”
Like almost every other part of the body, a normal diaphragm is streaked with a complex network of veins, blood vessels and capillaries that carry critical nutrients to and from the tissue and ensure proper growth and function.
The researchers discovered that mice deficient in Ndst1 have a very poorly developed vascular system within the diaphragm, which contributes to the tissue’s weakness and tendency to tear under stress.
Other organs in the Ndst1 deficient mice appeared completely normal, meaning that this gene particularly is associated with the development of the diaphragm.