NIH researchers home in on genes linked to age-related macular degeneration

Findings point to potential treatment strategies



AMD causes the loss of cell function in the macula, the area of the retina required for seeing details in one’s central area of vision. AMD is a leading cause of vision loss and blindness among people age 65 and older.                        Image credit: National Eye Institute

National Eye Institute scientists led a collaborative study and zeroed in on genes associated with age-related macular degeneration (AMD), a leading cause of vision loss and blindness among people age 65 and older. These findings provide a more expanded and in-depth picture of the genetic contributions to AMD, and they present new pathways for treatment development. The study was published Feb. 11 in Nature Genetics.

“If we were conducting a criminal investigation, prior research would have localized different crime syndicates to 52 streets within 34 zip codes. These latest findings identify actual suspects–direct targets that we can more closely investigate,” said the study’s lead investigator Anand Swaroop, Ph.D., chief of the Neurobiology-Neurodegeneration and Repair Laboratory at NEI, which is part of the National Institutes of Health.

Previously, Swaroop and colleagues had compared populations of people with and without AMD and identified 34 small genomic regions–called loci–and 52 genetic variants within these loci that were significantly associated with AMD. “However, as with other common and complex diseases, most of the variants turned out not to be present in protein-coding regions of the genome, leaving us to wonder how they were having a biological effect on AMD,” said Swaroop.

The researchers explored whether the variants might regulate AMD-relevant genes, possibly at promoters, which are sequences within DNA that turn genes on, or enhancers, which increase the activity of promoters. If the variants did indeed regulate gene expression, a key question remained: what were the genes that the variants were regulating?…….

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Source: Eurek Alert

Image credit: National Eye Institute