They found a potential target for the treatment of Hirschsprung's disease


Published 09/01/2019 10:27:47CET


Scientists at the University of Helsinki (Finland) found in mice that mucin-producing mast cells may have a specific cell type that is responsible for lubricating the inner surface of the gut, a potential target for the preventive treatment of the disease. Hirschprung.

The disease that is present in approximately one in every 5,000 children consists of a lack of enteric cells in the distal column and causes an increase in colon and constipation. The condition is treated with surgical removal of the affected part of the bowel, but in patients there is a high risk of enterocolitis or inflammation of the gut.

Almost half of Hirschprung's cases cause mutations in the receptor gene called RET, a large protein molecule located on the cell surface and receiving signals from other cells.

During development, the complex consisting of GDNF and GFRa1 proteins binds to RET and activates the signal needed to develop enteric cells. The researchers also found that reduced expression of GFRα can contribute to susceptibility to the disease caused by Hirschsprung.

Animal studies in front of the University of Helsinki focused on genetic mutations that were smaller. However, the model developed by researchers led by Professor Jaan-Olle Andressoo links enterocolitis to the GDNF, GFRa1 and RET ratio, which represents the majority of patients.


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