A novel drug to prevent cone cell loss in inherited retinal disease is showing promise, with further research into its treatment potential underway.
The Lions Eye Institute (LEI) is investigating the therapeutic potential of a novel drug, GSK-J4, to protect cone cells in a specific type of inherited retinal disease known as achromatopsia, or total colour blindness.
Led by Dr Livia Carvalho at the LEI’s Retinal Genomics and Therapy research group, a large part of the research is focused on how to preserve cone-mediated vision.
Cone cells are integral for most vision, including colour and bright light vision. Without cone cells functioning properly, people may struggle to perform tasks such as reading, driving and recognising faces.
In this recently published study, PhD candidate Ms Annie Miller delved into epigenetics, which looks at genetic changes to the way a cell works without actually altering the DNA.
Epigenetic changes can be the addition or removal of certain chemical groups to the DNA itself, or to a special molecule called a histone. Histones are essential proteins that help to tightly compact DNA in the cell, allowing each cell to store almost two metres of DNA.
An international collaboration, the team on the study included scientists from Germany and Switzerland, as well as local contributors from The University of Western Australia and Murdoch University.
According to the LEI, the team used a disease model of the inherited cone loss condition achromatopsia, and found epigenetic changes to a specific type of histone, which appears to contribute to the death of the cone cells in this disease.
“When the team targeted this change with a drug called GSK-J4, they found if they continually administer the drug into the cone cells, they could prevent the death of these cones,” LEI said.
“Currently, it is not possible to provide continuous release of a drug in a patient’s retina, however, large strides are being made in the field. To further research into the treatment potential of GSK-J4, the team is currently investigating exciting nanoparticle approaches to provide this drug to a patient’s retina continuously, and also testing if GSK-J4 can protect cones in other models of inherited retinal disease such as retinitis pigmentosa.”
Click here to read the paper.
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