Bringing Stability To The Protein Defective In Phenylketonuria
Saturday, July 5, 2008 - 21:14
in Biology & Nature
Phenylketonuria is an inherited disease characterized by progressive mental retardation and seizures because the individual is deficient in the protein PAH. Most of the genetic mutations that cause PKU do so because the PAH protein that is generated by the mutated gene is not stable enough to function. New data now suggest that it might be possible to stabilize the mutated PAH protein in individuals with PKU such that it can function normally.