Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain

Publication date: Available online 20 August 2019Source: Molecular Genetics and MetabolismAuthor(s): Geoffrey Y. Berguig, Nathan T. Martin, Athena Y. Creer, Ryan Murphy, Glenn Pacheco, Lin Xie, Lening Zhang, Sherry Bullens, Joy Olbertz, Haoling H. WengAbstractIn phenylketonuria (PKU), mutations of the phenylalanine hydroxylase (PAH) gene decrease the ability of PAH to convert phenylalanine (Phe) to tyrosine (Tyr) resulting in Phe accumulation in the blood and brain and disruption of neurotransmitter (NT) biosynthesis and metabolism. The following translational study explored the relationship between pegvaliase-mediated Phe correction in plasma and the NT biosynthesis and metabolism pathway in mice and humans with PKU. Lower plasma Phe levels were associated with normalization of the NT biosynthesis pathway which correlated with an improvement in inattention symptoms in subjects with PKU.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research