According to a story from Eurek Alert!, a team of scientists affiliated with the University of Helsinki have successfully developed a new, more useful Hirschsprung’s disease mouse model. This disease is caused by genetic mutations, but the mouse model that had been used for this disease in the past was based on one of the less common mutations associated with Hirschsprung’s disease. This means that its usefulness was limited when used for research.
About Hirschsprung’s Disease
Hirschsprung’s disease is a genetic disorder which is characterized by the absence of certain nerves in part of the intestine. This can cause frequent constipation and other symptoms to appear. Males are more commonly affected than females. The condition may appear on its own or alongside other genetic conditions, such as Down syndrome. The condition can be heritable within a family or may be the result of a new mutation; the most commonly affected gene is the RET gene. Less commonly the NRG1 or NRG3 gene is affected. The cause is not clear in all cases. Symptoms appear within the first few months of life, and usually include constipation, slow growth, vomiting, diarrhea, and abdominal pain. It can also cause more severe complications like intestinal perforation, megacolon, or bowel obstruction. Hirschsprung’s disease is most commonly treated with surgical removal of the affected portion of the intestine. To learn more about Hirschsprung’s disease, click here.
Finding New Approaches
The challenge with treating Hirschsprung’s disease lies in the fact that many patients remain at risk for gut inflammation following surgery. This can occasionally be life threatening, and as a result, new treatment approaches for this illness are needed. Mouse models can play a very important role in the development of such treatments. Therefore the effectiveness of these models is important, as is their ability to accurately replicate the mechanism of the disease.
The process of developing the new model has already helped reveal new information about the course of enterocolitis, or gut inflammation. The researchers found that a type of cells called goblet cells, which play a role in producing lubricant for the gut, may be a useful therapeutic target. Additionally, reduced expression of GFRa1 may be a risk factor for Hirschsprung’s disease.
Check out the research study here.
