Mechanism of molecules that cause blindness identified

A degenerative eye disease such as: retinitis pigmentosa usually leads to blindness. Hereditary degeneration appears to be due to the loss of photoreceptor cells. The University of Geneva and Lausanne have a molecular mechanism causing the degeneration of the photoreceptors of the eye. This can lead to blindness. The main role is played by a molecular hinge of four proteins. If such a hinge is not present, retinal cell death eventually occurs.

The mutation in the genes of these four proteins are found in a connect her. The latter connects the internal and external segment, which contains all the metabolic “machines” useful for making cells work. Mutations in the genes of the four proteins are related to retinal syndromes reporting photoreceptor degeneration. Scientists have identified these proteins in centriolestypical cylinders present in animal cells.

In the absence of the mutation, we found that, as we had previously seen in the centrioles, these proteins provide cohesion between the microtubules by forming a hinge that closes as development progresses.

Olivier Mercey, researcher and first author of the study

If the protein gene nevertheless changes, i microtubules they appear normal and then gradually become less and less connected. For example, in affected adult mice, the microtubules are no longer compressed and thus coincide with the loss of photoreceptor cells.

By injecting the protein into patients suffering from certain types of retinitis pigmentosa, we envision that the molecular hinge can be restored to ensure the structural integrity of the connecting cilia microtubules, thus preventing the death of photoreceptor cells.

Paul Guichard, co-author of the study

This research has led to a better understanding of the molecules and structure of retinitis pigmentosa. In addition, consider other treatments for cell degeneration.