Researchers have found a new gene mutation that is responsible for glaucoma. Beacuse of their findings this can help with the development of new drugs and treatments for glaucoma. – MDA

Local researchers discover mutated gene responsible for severe eye disorder

According to researchers, Singaporean Chinese with the mutation are 40 to 56 per cent more likely to develop Exfoliation Syndrome (XFS) compared to those without the mutation. The gene believed to be responsible for XFS is called CACNA1A.
SINGAPORE: Researchers from A*STAR’s Genome Institute of Singapore (GIS) and the Singapore Eye Research Institute (SERI) have discovered a mutated gene that renders people highly susceptible to a severe eye disorder called Exfoliation Syndrome (XFS).
In a news release on Thursday (Apr 16), A*STAR said that researchers found that Singaporean Chinese with the mutation are 40 to 56 per cent more likely to develop XFS compared to those without the mutation. Singaporean Indians with the mutation are 19 to 25 percent more likely to develop XFS.
“XFS usually develops in people above the age of 60 and is characterised by the body’s inability to remove abnormal protein deposits from inside the eye,” said the news release.
It added: “The accumulation of these protein deposits clogs the eye’s drainage mechanism that results in a build-up of fluid and pressure in the eye in a condition called glaucoma. If left untreated, a person with glaucoma can become permanently blind.”
The gene believed to be responsible for XFS is called CACNA1A. The scientists found that CACNA1A affects the body’s calcium transport channels, which are important for many vital biological functions.
Those who carry the CACNA1A gene have faulty calcium transport channels that hinder normal bodily functions, such as the eye’s ability to efficiently remove abnormal protein deposits, according to the news release.  
“With this knowledge, we can now concentrate our efforts to develop therapeutic solutions to address and normalise the calcium signalling function in order to reduce the risk of XFS and the development of glaucoma,” said Dr Khor Chiea Chuen from GIS…….
Read more: http://www.channelnewsasia.com/news/singapore/local-researchers/1788210.html
Source: Channel News Asia
 

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