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Researchers Identify Genes Linked to Cataract Formation

Cataracts are the world’s leading cause of blindness. Everyone is at risk for cataracts, but factors like age, UV ray exposure and smoking can cause cataracts to develop faster. Researchers are still studying the components that factor into cataract formation, and one scientist has made a recent development.

Biologist Salil Lachke, assistant professor of biological sciences at the University of Delaware and a Pew Scholar in biomedical sciences, has been studying lens development in mice to better understand whether there is a genetic component in cataract formation. He was assisted in his research by graduate students Smriti Agrawal and Archana Siddam, as well as post-doctoral fellow Deepti Ananad. The study was funded by a grant from the National Institute of Health (NIH) and a Fight for Sight grant-in-aid award to Lachke. The results were published in the Human Genetics journal.

The lens of the eye is made up of proteins and water. Some of the eye proteins, Mafg and Mafk, are important in helping transcribe genetic information and maintaining eye health. Lachke’s team found that if Mafg and Mafk were deficient, the eye lens would become cloudy.

Finding the specific genes that regulate lens transparency is very difficult. Lachke’s lab used a web-based bioinformatics tool called Systems Tool for Eye Gene Discovery (iSyTE) that he developed during his post-doctoral work at Harvard Medical School. Using iSyTE, Lachke and his team created a detailed map of the network controlled by Mafg and Mafk. Without these two regulatory proteins, several genes that regulated lens clarity were “turned down” in the mice, and cataracts began to form just four months after birth.

In just four years, the iSyTE tool has helped advance eye disease gene discovery. Lachke stated, “There are 22,000 protein-coding genes in our genome—and far less than half are characterized. Extending the iSyTE approach to other components of the eye and other tissue or organs will greatly expedite gene discovery and advance our understanding of the human genome” (Source: Medical Xpress).