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Joesph Duke will be presenting a seminar titled The Role of Phenylalanine Hydroxylase in Phenylketonuria.
Abstract: Pheynylketonuria is a disease that arises from malfunction in the body’s pathway of degradation of the amino acid, phenylalanine. [1] Cognitive damage, birth defects, seizures, and rashes characterize the disease. [1] In this disorder, phenylalanine hydroxylase, the protein responsible for metabolism of phenylalanine to tyrosine, is rendered nonfunctional due to mutations to the two alleles that code for it. [1] Roughly half reported cases have been determined to be the result of missense mutations, and many mutations involve catalytic related locations on the tetrameric protein. [1] [2] Inability to process phenylalanine leads to high levels of the amino acid in the blood; and, most dangerously, in the brain where buildup can lead to mental impairment. [1] Several mechanisms, including phenylalanine interference with neurotransmitter transporters, have been postulated. [1] Potential treatments for phenylketonuria include removal of phenylalanine from the diet; supplementation of the enzyme cofactor, tetrahydrobiopterin, to restore some enzyme activity; and addition of the enzyme, phenylalanine ammonia lyase, to provide an alternative pathway of phenylalanine degradation. [3] Additionally, blood screening during pregnancy is necessary to diagnose the disorder as early as possible to avoid cognitive and physiological defects. [1]
Course Instructor: Dr. Yinan Wei