Researchers Make Discovery On CERKL Gene’s Role In Causing A Rare Hereditary Eye Disease

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Researchers have discovered a significant breakthrough concerning the role of the CERKL gene in causing retinitis pigmentosa, an inherited eye condition. This finding holds promise for the development of innovative therapies to halt vision loss in affected individuals.

Exposure of retina to light causes oxidative stress

Retinitis pigmentosa, a rare hereditary vision disease, affects one in 3,000 people globally, leading to blindness due to retinal damage. Researchers, including the University of Barcelona team, have identified over 90 genes associated with the condition, with more than 300 potentially affecting vision, with the CERKL gene’s role discovered in 2004.

The retina is regularly exposed to light, causing oxidative stress due to an imbalance between antioxidants and free radicals, which harms tissue. The study highlights the importance of the CERKL gene in producing antioxidants in the retina to combat oxidative stress. When this gene is absent, the retina cannot generate antioxidants, resulting in cellular damage.

According to Professor Gemma Marfany, the study’s lead investigator, the absence of the CERKL gene leads to chronic stress in retinal cells, preventing them from triggering antioxidant defenses and causing cell death mechanisms to activate.

Removing CERKL gene stresses retinal cells

Researchers from the University of Barcelona and other institutions made a significant discovery using advanced gene editing techniques (CRISPR) in a transgenic mouse model. They found that the removal of the CERKL gene resulted in retinal cells being in a constant state of stress, making them susceptible to damage from continuous light exposure, ultimately causing cell death and blindness.

Dr. Marfany said that through multidisciplinary collaboration, they have delved deeply into pathology, uncovering insights into how the retina responds to light stress in the absence of the CERKL protein and identifying changes in cellular pathways.

The study’s results have significant implications for treating hereditary retinal dystrophy. Identifying the affected pathways due to the absence of the CERKL gene may pave the way for potential treatments, providing hope for individuals with vision impairments. Dr. Marfany highlights the potential to slow down disease progression by compensating for these pathways.

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