We are interested in how cell metabolism, signaling pathways, and gene expression are rewired in Lesch-Nyhan disease, a metabolic illness with severe neurological manifestations including dystonia, spasticity, cognitive deficit, and self-injurious behavior. The illness is caused by a deficiency in the purine savage enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). How a simple alteration in the purine metabolism produces dramatic effects on human behavior is still a mystery. We study the cellular abnormalities in Lesch-Nyhan disease and the potential treatments to revert these alterations.
