Gene mutation that causes common eye cancer discovered

London, Dec 11: A geneticist at University of British Columbia has discovered a gene mutation, which may cause the most common eye cancer - uveal melanoma.

Uveal melanoma is a cancer arising from melanocytes located in the uveal tract. The uveal tract is one of the three layers that make up the wall of the eye.

A melanoma is unregulated growth of melanocytes. Melanocytes are also found in the skin and are cells linked to a life-threatening form of skin cancer.

In their study, Catherine Van Raamsdonk, an assistant professor of medical genetics in the UBC Faculty of Medicine and colleagues, have found that a genetic mutation in a gene called GNAQ could be responsible for 45 per cent of the cases of uveal melanoma.

The findings have offered new hope to researchers for developing therapeutic interventions against some melanomas.

"We discovered that GNAQ regulates melanocyte survival. 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," Nature quoted Van Raamsdonk as saying.

It was found that the mutation to GNAQ triggers the activation of a signalling pathway that has earlier been involved in many other types of melanoma.

Also, the researchers found that this mutation plays a key role in the development of a type of benign skin mole - blue naevi.

"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," said Van Raamsdonk.

Uveal melanoma, the most common eye cancer, affects one in 13,000 people. It is a highly aggressive cancer without any effective treatment options once it metastasizes.

The study is published today in Nature. (ANI)


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