DEC 20, 2020 6:38 AM PST

A Repurposed Drug Can Treat a Genetic Disorder

WRITTEN BY: Carmen Leitch

Genetic diseases result from errors in a gene. Gene therapy seeks to correct those errors, and a variety of different approaches have been tested. But researchers have now shown that in some cases it may be possible to use a drug to restore gene function when there is a genomic mutation disrupting one of the two copies. The work has been reported in Science Translational Medicine.

Image credit: Modified from guvo59/Pixabay

Everyone inherits two copies of each chromosome (except for the sex chromosomes) so there is a backup copy of nearly every gene. For some genetic diseases, there must be two defective copies while for others it only takes one defective copy to cause a problem. In the case of an eye disease called aniridia, symptoms of the disorder occur when only one copy of a gene called PAX6 carries a mutation that renders its protein nonfunctional; the disease is inherited in an autosomal dominant manner.

People that carry a mutated form of PAX6 have eye development problems that significantly impair their vision and cause other systemic abnormalities. The disease, called aniridia, can progress through life, noted the corresponding study author Ali Djalilian, a professor of ophthalmology at the University of Illinois at Chicago.

Using a mouse model of aniridia, the researchers were able to screen drugs that enhance the activity of the PAX6 gene. This led them to a class of drugs called MEK inhibitors, which can trigger the expression of PAX6 in eye cells. When they tested an MEK inhibitor in newborn mice with low levels of PAX6, they were able to improve the development of the eye. Vision was also improved in mice that were exposed to a topical MEK inhibitor.

"Patients with aniridia can develop progressive loss of their corneal stem cells which is a challenging clinical problem. Our research in the Corneal Regenerative Medicine Laboratory is aimed at regenerating healthy corneal cells, which we hope can help these and similar patients," said study co-author Mark Rosenblatt, dean of the UIC College of Medicine.

"More studies are certainly needed before this approach can be tested in human patients, nonetheless, the study opens the possibility of using approved medications in some genetic diseases to enhance the function of a normal copy of a gene to compensate for the non-functional copy," said Djalilian.

Sources: AAAS/Eurekalert! via University of Illinois at Chicago, Science Translational Medicine

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
OCT 25, 2020
Genetics & Genomics
A Purr-fect Domestic Cat Genome
OCT 25, 2020
A Purr-fect Domestic Cat Genome
There are thought to be more than 94 million cats in the US alone. Researchers have now improved the reference genome se ...
NOV 12, 2020
Genetics & Genomics
Liposomes Potentially Safer Alternative to Viruses for CRISPR Delivery
NOV 12, 2020
Liposomes Potentially Safer Alternative to Viruses for CRISPR Delivery
To repair disease-causing errors in the genome, gene editing reagents like those used in CRISPR-Cas9 first have to reach ...
NOV 22, 2020
Genetics & Genomics
Many Kids with Inherited High Cholesterol Don't Get the Treatment They Need
NOV 22, 2020
Many Kids with Inherited High Cholesterol Don't Get the Treatment They Need
Our bodies need cholesterol for certain crucial functions; it's a vital component of cell walls, for example. But there ...
DEC 05, 2020
Genetics & Genomics
Super-Spreader Events Promoted 2018-2019 Hantavirus Outbreak
DEC 05, 2020
Super-Spreader Events Promoted 2018-2019 Hantavirus Outbreak
We've all learned about super-spreader events over the past year, but occasions where a large group of people gathers an ...
DEC 17, 2020
Genetics & Genomics
Using Tomatoes to Produce a Parkinson's Drug
DEC 17, 2020
Using Tomatoes to Produce a Parkinson's Drug
More and more people are being diagnosed with Parkinson's disease as the world's population ages. Scientists have now en ...
JAN 15, 2021
Genetics & Genomics
Rare Quadruple Helix DNA Found in Live Human Cells
JAN 15, 2021
Rare Quadruple Helix DNA Found in Live Human Cells
Many people picture the classic double-stranded helix when picturing a molecule of DNA, but DNA is also capable of formi ...
Loading Comments...