Editor: Akhmetova Aigerim
Author: Aldiyarbek Nurlan
Almost all genes in human DNA have two copies, one inherited from the mother and the other from the father. There are some genetic diseases in which only one copy is normal and the other is dysfunctional due to an error in the DNA. The idea behind this study was to see if a normal copy could be improved to make up for a non-functional copy.
The researchers used a mouse model of human aniridia, an eye disease that affects the iris and causes significant visual impairment and may also be associated with systemic abnormalities. In aniridia, one copy of the PAX6 gene is normal and the other is non-functional. The PAX6 gene is important for eye development, and patients with aniridia and PAX6 deficiency are born with vision problems that limit their vision and can progress throughout their lives.
Scientists have tested drugs that can potentiate PAX6 and found that a certain class of drugs known as MEK inhibitors can stimulate PAX6 expression in the eye. They tested this drug on newborn mice deficient in PAX6 and found that topical or oral administration of the drug increased PAX6 and partially normalized their eye development. In mice that received a topical MEK inhibitor, the cornea was more transparent (less scarring) and they could see better.
“Patients with aniridia can develop progressive loss of corneal stem cells, which is a complex clinical problem. Our research at the Corneal Regenerative Medicine Laboratory aims to regenerate healthy corneal cells, which we hope can help these and similar patients, ”said Mark Rosenblatt, dean of the UIC College of Medicine and co-author of the study.
Source: https://www.sciencedaily.com/releases/2020/12/201217145233.htm
