Research: “tightening the molecular zipper” helps prevent hereditary blindness
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Retinitis pigmentosa is a relatively common genetic disease that affects photoreceptors, the cells in the eye that record light. As they deteriorate, patients will begin to lose night vision and peripheral vision, and may become partially or completely blind after decades. Unfortunately, there are few treatment options.
Photoreceptor cells are small and complex, so with the development of disease, it is difficult to accurately judge what is happening inside. Therefore, in the new research, the team used an emerging technology called expansion microscope to expand the cells without deforming them, so that retinal tissue can be examined at a higher resolution than before.
The scientists focused on a component of photoreceptors called cilia, which links light sensitive pigments outside cells to machines that convert light into nerve signals. This connective cilia is associated with retinitis pigmentosa, but its role has been a mystery.
Using an expansion microscope, the research team found that four proteins drive a series of microtubules to stick together in the form of a “zipper”, thus fixing the cilia together. However, when a specific mutation occurs in the gene encoding one of these proteins (called fam161a), these microtubules will not be as tight as zippers. Over time, they unravel and eventually collapse, killing photoreceptors and leading to visual impairment associated with retinitis pigmentosa.
Although this work has fundamental significance in improving our understanding of how the disease occurs, the team said that it can also provide a reference for new potential treatments to prevent cell death and visual impairment. An idea will be evaluated in the follow-up work.
Paul guichard, co-author of the study, said: “by injecting this protein into patients with certain types of retinitis pigmentosa, we can imagine that the molecular ‘zipper’ can be restored to ensure the structural integrity of microtubules connecting cilia, thus preventing the death of photoreceptor cells.”
The study was published in the journal PLoS Biology.