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Investigating epigenetic changes to help solve inherited eye disease

Dr Livia Carvalho and a colleague in the research lab

A recently published study from the Lions Eye Institute investigates the therapeutic potential of a novel drug, GSK-J4, to protect the cones cells in our retina in a specific type of inherited retinal disease, achromatopsia (total colour blindness). 

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.

A big part of the research led by Dr Livia Carvalho at the Institute’s Retinal Genomics and Therapy research group is focused on how we can preserve cone-mediated vision.

Ms Annie Miller

In this study, PhD candidate Ms Annie Miller delved into a field called 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 of our cells 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. 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.

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.

Read the paper: https://link.springer.com/article/10.1007/s00018-022-04436-6

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