There are still many enigmas about the mechanism of action of the CERKL gene, which causes retinitis pigmentosa and other hereditary vision diseases.
Reviewed by Megan Craig, M.Sc.Sep 18 2023 Now, a team from the University of Barcelona has described how the lack of the CERKL gene alters the ability of retinal cells to fight oxidative stress generated by light and triggers cell death mechanisms that cause blindness. The new study, published in the journal Redox Biology, is a step forward in characterizing hereditary blindness and identifying key mechanisms to address future treatments based on precision medicine.
The study reveals for the first time that when the CERKL gene is missing, retinal cells are permanently stressed. "This basal exacerbated state means that when additional oxidative damage is caused — as with continuous light stimulation — the cells are no longer able to respond because they can no longer activate antioxidant response mechanisms", notes Gemma Marfany, a member of the UB's Department of Genetics, Microbiology and Statistics.
"Thanks to the multidisciplinary collaboration between teams, we have been able to combine different approaches to delve into the pathology caused by mutations in CERKL. Transcriptomics techniques have revealed how the retina responds to light stress when it lacks the CERKL protein.
"It is decisive to be able to make a good genetic diagnosis of patients and identify the gene that causes the disease. We now know that about 3% of patients with retinitis pigmentosa in Spain have mutations in the CERKL gene", says Marfany.
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