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Scientists find gene mutation linked to exfoliation syndrome, most common cause of glaucoma

A group of researchers from the Agency for Science, Technology and Research’s (A*STAR) Genome Institute of Singapore (GIS) and Bioprocessing Technology Institute (BTI), in addition to Singapore Eye Research Institute (SERI), have recognized a genetic mutation (functionally faulty CYP39A1 gene) related to exfoliation syndrome, the most common cause of glaucoma. The findings might pave the way in which for future analysis on the cause of exfoliation syndrome and potential cures. Their analysis was revealed in Journal of the American Medical Association (JAMA) on 24 February 2021.

Exfoliation syndrome is a systemic dysfunction characterised by irregular protein materials that progressively accumulates within the entrance of the attention. This dysfunction is the most common cause of glaucoma, and a significant cause of irreversible blindness.

In this research, the scientists sequenced all protein encoding genes of greater than 20,000 members from 14 nations throughout Asia, Europe, and Africa, together with greater than 1,200 Singaporeans. They noticed that folks with exfoliation syndrome are twice as probably to carry damaging mutations within the gene encoding for the CYP39A1 protein, an enzyme which performs an necessary position within the processing of ldl cholesterol. Further prolonged analyses recommend that faulty CYP39A1 perform is strongly related to elevated danger of exfoliation syndrome.

Although exfoliation syndrome is the most common cause of glaucoma, its origin is shrouded in thriller as a result of it’s not identified the place the irregular protein deposits (exfoliative materials) originate, and the way the illness comes about. Answers to these questions might present approaches to design and develop an efficient remedy. The present findings level to the necessary position of ldl cholesterol processing within the exfoliation syndrome illness course of. As ldl cholesterol is discovered abundantly in all cells, disruption to how ldl cholesterol is processed due to faulty CYP39A1 exercise might adversely impression their regular capabilities. In specific, this research found that epithelial cells within the entrance of the attention accountable for filtering the blood provide to produce the clear fluid generally known as aqueous humour that bathes and nourishes different cells within the eye, have been most affected by the CYP39A1 gene mutation. Disruption to the gene perform can compromise the filtering perform of epithelial cells and lead to leakage of exfoliative materials from the blood into the attention.

Prof Patrick Tan, Executive Director of GIS, stated, “This is a ground-breaking study that could facilitate future research efforts aimed at restoring defective CYP39A1 function and inhibiting the formation of exfoliation material in the eye as treatments for exfoliation syndrome and glaucoma.”

Prof Aung Tin, Director of SERI and Deputy Medical Director of SNEC, stated, “This is a major eye disease, affecting over 70 million people worldwide, which causes a lot of visual morbidity and blindness, not only from glaucoma but also due to complications related to cataract surgery. This study was notable for involving many centres from many different countries around the world, but led from Singapore. The study findings are very exciting as we found a new pathway for the disease which opens up possibilities for new treatments.”

Prof David Friedman, the Albert and Diane Kaneb Chair in Ophthalmology at Harvard University and Director of the Glaucoma Service on the Massachusetts Eye and Ear Infirmary, Boston, commented, “Very exciting work. The researchers have identified rare gene variants that results in disrupted cholesterol homeostasis and transport that will open the door to novel therapeutics. Having studied over 20,000 individuals, the study demonstrates the power of studying rare variants to detect disease-causing genes in complex conditions.” Prof Friedman was not concerned within the research.

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Materials offered by Agency for Science, Technology and Research (A*STAR), Singapore. Note: Content could also be edited for fashion and size.

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