Researchers from Mount Sinai School of Medicine have found a new mechanism that explains why a certain gene mutation causes craniofrontonasal syndrome (CFNS), a disorder that causes cleft palate and other malformations in the face, brain, and skeleton. Previous research has shown that a mutation in a gene called ephrin-B1 caused abnormalities in facial development, but researchers were uncertain of how. "Common thinking has been that ephrin-B1 only guided cells in craniofacial development," said Dr. Soriano, PhD, Professor, Developmental and Regenerative Biology. "We were surprised to learn that, instead, this gene signals for cells to multiply." So they found when a gene signals cells to multiply and the mutation is present, the defect will form. So this new mechanism may be the path to creating a treatment to stop the mutation by turning off the signal that cause the mutated cells to multiply during development.
They plan to study ephrin-B1 further by identifying which molecules work in conjunction with it and how. Gaining a further understanding of the signaling mechanisms of this gene will likely lead to designing prevention and treatment strategies.
Cleft lip/cleft palate is an on-going problem, especially in third world countries. So identifying the mutation in the gene is a great accomplishment on the road to prevention of this terrible condition. Also, learning that the mutation on the gene signals cells to multiply and form the defect, rather than just guiding the cells in development is a huge step in the development of a way to stop the gene from signaling cells to multiply with the defect. There are many organizations that work to help children with this disorder, like Operation Smile. I'm glad there they are some steps forward in the treatment and prevention of this terrible genetic disorder.
This article reminded me of a little boy I saw on my trip to India. That little boy was about 5 years old and he too had this defect. At first , I thought that, probably the boy had either had a burning accident or fell on something. By reading this article I found out about the exact why the boy had a facial defeact. I think that it is a great accomplishment for the scientists to find such a gene that leads facial mutation. In this way it will help many children around the world to recieve treatment, and regain their smile.
ReplyDeleteIt's good that they can identify the gene and maybe work on eliminating it that way. I've heard of Operation Smile and I've actually donated to them before, but they are really overextended. Perhaps a more practical alternative can be discovered through genetic therapy.
ReplyDeleteI'm happy to hear that scienetists have identified the gene that forms cleft palette. I've personally come across a number of children who were born with this defect and I always felt so sorry for them. Not only can this cause some physical problems but a child can also be psycholigically affected simply because they were born differently. Hopefully, scientists cna find a way to eliminate this from happening.
ReplyDeleteMany children around the world are in need of medical surgeries that they cannot afford. <a href= http://hubpages.com/hub/The-Smile-Train-Helping-Children-With-Cleft-Lips smile train provides cleft palate surgeries for free!
ReplyDeleteit is inspiring to see an organization reaching out and helping those who cannot help themselves a smile is priceless...
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