Researchers Identify Genes Linked to Cataract Formation

YSM- Researchers Identify Genes Linked to Cataract FormationResearchers at the University of Delaware may have found a way to help prevent the formation of cataracts, the world’s leading cause of blindness. Biologist Salil Lachke, assistant professor of biological sciences and a Pew Scholar in biomedical sciences, studied lens development in mice to better understand the genetic component that factors into 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 team’s goal was to better understand the genetic connection that leads to cataract formation in humans.

The lens of the eye is comprised of several types of proteins, and some are important in transcribing genetic information and maintaining eye health. Lachke’s team found that a deficiency in two distinct genes that encode regulatory proteins (Mafg and Mafk) causes eye lenses to become cloudy and develop cataracts, independent of the aging process or radiation damage.

To isolate the genes that are essential to lens transparency, 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 controlled lens clarity were “turned down” in the mice and cataracts began to form just four months after birth.

Lachke has made the iSyTE tool available to the public and says it has many other uses. 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.”

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 (Source: Medical Xpress).