Genetic mutation linked to eye cancer discovered

December 11th, 2008 - 11:57 am ICT by IANS  

Toronto, Dec 11 (IANS) Canadian researchers have discovered a gene mutation that can lead to the most common eye cancer.According to Catherine Van Raamsdonk, an assistant professor of medical genetics at the University of British Columbia who led a team of researchers, a genetic mutation in a gene called GNAQ could be responsible for up to 45 per cent cases of uveal melanoma.

Uveal melanoma is defined as the cancer of the uveal region which is one of the three layers that make up the wall of the eye.

It is caused by unregulated growth of melanocytes which are also found in the skin and are cells linked to a life-threatening form of skin cancer, a university statement in Vancouver said Wednesday.

“We discovered that GNAQ regulates melanocyte survival,” Van Raamsdonk was quoted in the statement as saying.

“When the GNAQ gene is mutated it leads to unregulated growth of melanocytes. Since cancer is a disease of unregulated cell growth, our findings led us to the discovery that a genetic mutation of the GNAQ gene causes uveal melanoma,” she said.

Van Raamsdonk added, “Prior to our work, the mutations responsible for uveal melanoma were completely unknown.no other research looked at mutations in GNAQ. The next step is to develop an effective treatment by targeting the specific biological processes that this mutated gene controls.”

An aggressive cancer without any effective treatment, uveal melanoma is the most common eye cancer in the US. Researchers also linked this genetic mutation to the development of a skin mole called blue naevi.

The findings have been published in this week’s Nature journal.

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