Scientists from the Florida campus of The Scripps Research Institute (TSRI) have discovered how a protein called alpha2delta4 establishes proper vision. Their research helps explain why mutations in the gene encoding alpha2delta4 lead to retinal dystrophy, a disease characterized by defective color vision and night blindness.

To study how this protein supports vision, the researchers modeled retinal dystrophy in mice. Like humans, mice lacking alpha2delta4 succumbed to the disease and their vision was compromised.

“Much of our work is driven by desire to understand what goes awry in a range of blinding conditions,” explained TSRI Professor Kirill A. Martemyanov, senior author of the new study. “Now we have found a molecule that plays a key role in allowing photoreceptors to plug into the neural circuit and transmit the light signals they receive to the brain.”

The study was published online recently in the journal Neuron.