Mutation in deafness gene can help heal wounds and prevent...( A mutation in a gene commonly associate...)

A mutation in a gene commonly associated with deafness can play an important part in improving wound healing, a scientist told the annual conference of the European Society of Human Genetics in Amsterdam, The Netherlands, today (Monday 8 May 2006). Dr. Stella Man, from the Institute of Cell and Molecular Sciences, Queen Mary's University, London, UK, said that the discovery may have implications for the treatment of a wide range of wounds, including post-surgery.

Dr. Man and her team, led by Professor David Kelsell, were studying the association between a mutation of a gene (GJB2) which produces a protein called Cx26 which is the most common cause of genetic deafness. Professor Kelsell was the first to describe the link between Cx26 mutations and deafness in 1997. "Since many people carry this mutation", Dr. Man said, "and people who have just one such mutation are not deaf, we felt that there might be some evolutionary advantage to it, so we decided to investigate how the mutation affected the ability of cells to communicate with each other in the epidermis where Cx26 is also expressed."

The cells within tissues such as skin need to be able to communicate with each other in order to retain their correct characteristics and allow the tissue to grow and repair itself. One way that cells communicate is through the regulated opening and closing of channels called gap junctions that link cells together. The main components of these channels are proteins called connexins, of which Cx26 is one.

"When we looked at the function of Cx26 in a laboratory skin model", said Dr. Man, "we found that it was directly associated with wound healing and bacterial invasion. We concluded that there is a definite advantage to carrying a mutation in this protein."

If a drug that temporarily knocks out Cx26 protein can be successfully delivered to the wound, healing could be improved. Such a drug could be useful in a wide range of epidermal wounds,
'"/>

Contact: Mary Rice
mary@mrcommunication.org
European Society of Human Genetics
8-May-2006

Page: 1 2
Related biology news :

1. Mutation improves memory, may lead to memory-enhancing pill
2. Mutation in HNF4A associated with an increase in birthweight and macrosomia
3. Mutations point the way to new leukemia drugs
4. Mutation in tumor suppressor gene causes pancreatic islet cells to reproduce
5. Mutation in blood stem cells provides clues to cancer development
6. Mutation in a single gene switches a fungus-grass symbiosis from mutualistic to antagonistic
7. Mutation in brain cells of descendants of Abraham Lincoln suggest he suffered from movement disorder
8. Mutations in the BRAF gene predict sensitivity to a novel class of cancer drugs
9. Mutation may raise prostate-cancer risk in African Americans
10. Mutations in NOTCH1 gene cause aortic valve disease
11. Mutation in clams protects against paralytic shellfish poisoning but raises human health risk