Coloured for clarity, electron microscope image of the retina showing the presence of the NUMB protein in photoreceptors
Photo Credit: IRCM- Cauouette

New discovery in degenerative eye disease

According to the Foundation Fighting Blindness Canada, millions of people in North America live with varying degrees of irreversible vision loss because they have an untreatable, degenerative eye disorder that affects the retina.

Part of the problem in combatting degenerative eye disorder is that the mechanics of the degenerative process were not well-understood.

Now a research team from Canada has discovered a very important piece of that puzzle.

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Research team that made the discovery L-R, Left to right: Christine Jolicoeur, Vasanth Ramamurthy, Michel Cayouette © IRCM

The research team in Canada worked in collaboration with researchers in the United States and Germany on the process called “compartimentalization” in which compartments within a cell each have a specific set of proteins which are critical for the nerve cells (neurons) to function properly in detection and interpretation of light and colour.

The research was published in the latest edition of the Journal of Neuroscience.

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Coloured fro uidentification purposes, this is an electron microscope view A section of the retina with the cells labeled using different colours. The photoreceptors appear at the top of the image and are only labeled blue. The bipolars cells, other neurons of the retina, are labelled green and blue. © IRCM-Cayouette

In studying this compartimentalization process in photoreceptor cells, the team worked with NUMB which is both a gene and a protein.

The NUMB gene encodes the DNA information to make the NUMB protein.

They discovered that the Numb protein  acts like a traffic policeman helping direct other appropriate proteins to the inner or outer compartment of the photoreceptor cell, and especially in bringing a very specific protein needed in a specific compartment of the cell in order for the neuron to detect light.

When Numb was removed or disabled, the molecules essential for vision do not reach the right compartment and the photoreceptor cell starts to degenerate and eventually die. Vision loss begins as more of the cells die, until eventually blindness occurs.

Professor Cayouette says this important discovery opens up a completely new avenue for other research into potential treatments for degenerative eye diseases like retinitis pigmentosa and Leber’s congenital amaurosis.

The research was funded by grants from the Canadian Institutes of Health Research, the Foundation Fighting Blindness Canada and the Fonds de recherche du Québec – Santé

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