Gene Linked To Exfoliation Syndrome Discovered

A genome-wide association study has uncovered mutations in CACNA1A as a potential cause of exfoliation syndrome.

AsianScientist (Apr. 21, 2015) – Mutations in the gene CACNA1A has been linked to a severe eye disorder called exfoliation syndrome (XFS). The study documenting this finding has been published in Nature Genetics.

XFS usually develops in people above the age of 60 years old and is characterized by the body’s inability to remove abnormal protein deposits from inside the eye. 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.

A team led by researchers from the Agency for Science, Technology and Research’s (A*STAR) Genome Institute of Singapore (GIS) and the Singapore Eye Research Institute (SERI) found that CACNA1A affects the body’s calcium transport channels. 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.

“Glaucoma is one of the most common eye diseases in Singapore and around the world. With this knowledge, we can now concentrate our efforts to develop therapeutic solutions to address and normalize the calcium signaling function in order to reduce the risk of XFS and the development of glaucoma,” said Dr. Khor Chiea Chuen from GIS.

Singaporean Chinese with the mutation are 40-56 percent more likely to develop XFS some time in their lives compared to Singaporean Chinese without the mutation. This figure is in stark contrast to the global average of 16-25 per cent of similar individuals likely to develop XFS.

The study also sheds light on other related diseases and offers further understanding of such diseases:

“This new gene may not only explain some of the manifestations of exfoliation syndrome, but may also help us explain why associated systemic diseases occur in conjunction with it. This discovery opens doors to further elucidation, understanding, and perhaps new treatments for exfoliation syndrome,” said study co-author Professor Robert Ritch, Shelley and Steven Einhorn Distinguished Chair, Professor of Ophthalmology and Surgeon Director and Chief (Glaucoma Services) at The New York Eye and Ear Infirmary.

The article can be found at: Aung et al. (2015) A Common Variant Mapping To CACNA1A Is Associated With Susceptibility To Exfoliation Syndrome.


Source: Genome Institute of Singapore.
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