RetGen

Now, a team of researchers at UW-Madison has taken a small but crucial step forward in the ongoing fight against retinal degeneration. Working with fruit flies, the scientists have discovered that a mutation in a common gene called calnexin can derail the light-processing activity of cells and set in motion the gradual breakdown of vision. They report their findings today in the journal Neuron.

Calnexin-found in both fruit flies and humans-functions as a cellular chaperone, ensuring that proteins "fold" or orient properly and get to the parts of the cell they need to go. It also modulates calcium levels, which is critical for proper vision.

When calnexin goes awry, however, calcium levels build up and the proteins that depend on it malfunction, says senior author Nansi Jo Colley, a medical geneticist at the UW-Madison departments of ophthalmology and genetics, and an affiliate of the Eye Research Institute.