Certain age-related cataracts may be due to problems with a specific gene, according to researchers at Case Western Reserve University School of Medicine (Cleveland, Ohio).
A gene called EPHA2 appears to be involved in maintaining the health and normal structure of proteins in the lens of the human eye. When this gene is absent or damaged, lens proteins begin to clump together and form lens opacities, or cataracts, say investigators Bing-Cheng Wang, PhD, and Sudha K. Iyengar, PhD.
Drs. Wang and Iyengar are collaborating in research with several other investigators in laboratories across the U.S. and in Australia and the U.K.
So far, the researchers have identified several mutations of the human EPHA2 gene that appear to be associated with age-related cataracts, and they continue to look for more.
By better understanding the processes by which the EphA2 gene helps maintain clarity of the human lens, they researchers may be able to find ways to prevent cataracts and possibly reverse them, perhaps reducing the need for cataract surgery.
The researchers also say other studies suggest common genes and pathways may be involved in both age-related cataracts and neurodegenerative diseases (e.g. Alzheimer’s disease) that affect the elderly.
Their report, “EPHA2 is associated with age-related cortical cataract in mice and humans,” appears in the July 2009 issue of PLoS Genetics.