Step Forward in Characterizing Hereditary Blindness Identifies Key Metabolic Pathways to Address in Possible Future Treatments

Professor Gemma Marfany
There are still many enigmas about the mechanism of action of the CERKL (ceramide-kinase-like) gene, which, when mutated, causes retinitis pigmentosa and other hereditary vision diseases. Now, a team from the University of Barcelona has described how 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, conducted in mice and published September 1, 2023 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 open-access article is titled “Exacerbated Response to Oxidative Stress in the Retinitis Pigmentosa CerklKD/KO Mouse Model Triggers Retinal Degeneration Pathways Upon Acute Light Stress.”
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