Tuesday, April 7, 2015

Genetic clues on the origin of Hirschsprung's disease



Two genetic variations were found to cause Hirschsprung’s disease, a possibly fatal disease that occurs once in every five thousand births. Hirschsprung’s disease causes bowel obstruction in infants due to nerves that control the colon not developing properly in the womb. When left untreated Hirschsprung’s is fatal in infants.  Aravinda Chakravarti, a professor at Johns Hopkins University, started a study on the disease in 1990 and in 2002. In the studies 650 patients markers were compared. A variant in the Ret gene was found in common with the patients along with genes for several semaphorins, proteins that guide nerve cells growth. These two genes are part of a system of signals called pathways, and when the two variants are present the nerve cells that control the colon cannot develop.

Presently there are no tests to identify the likeliness of the disease. Hopefully with the information provided in this study there will be progress in developing a test to identify which children will be born with the disease, and treatment can be given immediately before fatalities can occur.

2 comments:

  1. This information is very interesting to me. I hope with these new findings, tests can be developed to detect this and help save the lives of infants who face this rare disease. More research should be done to find out how these genetic variations cause the colon to not develop properly, so a cure or treatment can be found.

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  2. This is a very interesting article. I have never heard of this disease. I didn't know such a thing even existed. This sounds very painful and uncomfortable for the infant. I wonder, now that the gene is known to cause this, what treatment plan will be developed. I also wonder what other conditions can be arisen due to the Ret gene since it appears to play a profound role in nerve cell growth.

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