Principal Investigator
maamrin@pitt.edu
Research Focus
In retinitis pigmentosa (RP), rods' death leads to loss of night vision, followed by the dysfunction and death of cones that provoke blindness in patients. The loss of rods triggers the loss of expression of rod-derived cone viability factor (RdCVF), one of the products of the nucleoredoxin-like 1 gene (NXNL1) made by intron retention. In the retina, RdCVF, secreted by rods, binds to basigin-1 and the glucose transporter, GLUT1, which leads to an increase in glucose entry into the cones where it is metabolized by aerobic glycolysis to sustain daily renewal of cone outer segments. Glucose through RdCVF expression also sustains the redox power of the thioredoxin enzyme RdCVFL, the second product of NXNL1 resulting in NXNL1 gene splicing.
Our research project aims to gain a better understanding of RdCVF, responsible for the interaction between rod and cone photoreceptors. This research could help provide new therapeutic avenues to delay or even prevent central vision loss and blindness in retinitis pigmentosa, an incurable retinal pathology with devastating impact.