Discovery of a gene linked to AMD
Sunday, October 27 2013 | 00 h 00 min | News
The loss of an anti-aging gene might contribute to the development of age-related macular degeneration.
After studying mice, researchers at Georgetown University found that the loss of the expression of the aging-suppressor gene Klotho leads to characteristics observed in both wet and dry forms of AMD in humans.
The researchers found four functions provided by the Klotho gene, a hormone that is secreted by some organs and tissues. It increases the activity of genes that synthesize the light absorbing visual pigments in the retinal cells. Klotho also increases the expression of genes that protect against the oxidative stress, which can lead to dry AMD. Klotho inhibits vascular endothelial growth and therefore, might play an important role in inhibiting the overgrowth of blood vessels in the eye. Klotho also regulates phagocytosis of the outer segment of photoreceptors in the retina. This process allows the photoreceptors to renew themselves. Without it, the photoreceptors degenerate and die causing blindness.
“For these reasons, we believe Klotho might be an interesting therapeutic target for age-related macular degeneration,” says senior investigator Nady Golestaneh. She nonetheless remains cautious, admitting that further studies should be done to quantify the decline of Klotho expression in human eyes and to link this dysfunction to AMD.