Inherited Retinal Degeneration: Why do cells die?
One in about 3,500 Canadians is affected by retinal degeneration such as retinitis pigmentosa. The photoreceptors—light-sensitive cells of the retina—of people with this disease die because of a mutation in any one of about 200 different genes, eventually causing blindness.
The research of Dr. Roderick R. McInnes, Canada Research Chair in Neurogenetics, focuses on retinal degeneration. By examining the retinas of mice that have the same genetic mutations as humans with retinal degeneration, he aims to identify the biochemical changes in the photoreceptors that cause the cells to die.
McInnes also studies the way neurons (brain cells) “talk” to one another. Conversations between brain cells occur through synapses, which are highly specialized sites of communication between individual neurons. McInnes has identified two proteins, Neto1 and Neto2, that regulate the communication function of the synapses. A lack of those proteins can cause abnormalities in the brain, such as impaired learning, seizures and defects in the connections between neurons.
By determining Neto proteins’ exact role, McInnes will gain insight into a broad range of fundamental brain processes.