A team of scientists from the University of Barcelona has made a big discovery about a mysterious gene, CERKL, that causes hereditary blindness.
When this gene is missing or messed up, it makes the cells in the eye’s retina super stressed and unable to handle the damage caused by light.
Over time, these stressed-out cells start dying, leading to blindness. This new study takes us one step closer to understanding and treating blindness at its root.
The study was a team effort, involving scientists from various research institutes. They used specially bred mice that lacked the CERKL gene and studied how their eyes responded to light.
The scientists found that the retina, the part of the eye that senses light, couldn’t handle the damage caused by everyday light exposure.
How Eye Cells React to Stress
In simple terms, our eyes are always being hit by light, which can cause what scientists call “oxidative stress.”
Normally, our eye cells can handle this by using their built-in stress fighters—antioxidants. But the new study showed that when the CERKL gene is missing, the cells just can’t cope.
When exposed to regular light, the cells didn’t activate their usual stress-fighting responses. This left the retina in a state of permanent stress, which eventually led to the activation of cell death processes.
This helps explain why people with missing or faulty CERKL genes end up losing their vision.
What’s Next? Affordable Treatments for the Future
Hereditary blindness isn’t rare. About one in 3,000 people worldwide has some form of it.
While around 90 genes are known to be involved in a type of hereditary blindness called retinitis pigmentosa, scientists believe over 300 genes could affect vision in different ways.
Knowing the exact gene causing the disease is crucial for creating personalized treatments.
Understanding the role of the CERKL gene opens up new possibilities for treatment. While gene therapy can be effective, it’s often expensive and not available to everyone.
But now, knowing what goes wrong when the CERKL gene is missing, scientists can explore other affordable treatments that could help a lot of people.
These could include drugs that help the eye cells cope with stress. Such drugs would target the specific biological pathways that get messed up when the CERKL gene is missing.
This could be a more affordable way to slow down or even stop the progression of the disease.
Wrapping It Up
The University of Barcelona research team has been studying vision diseases for more than 25 years. They were the ones who first identified the CERKL gene as a cause of retinitis pigmentosa.
Their continued work aims to fully understand how this gene affects eye health and to create new treatments based on that knowledge.
In the future, they plan to develop new disease models and work on precision treatments that could make life better for people suffering from this form of hereditary blindness.
The research findings can be found in Redox Biology.
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