背景: |
Tyrosine hydroxylase (TH) is a rate-limiting enzyme for catecholamine biosynthesis. Functional polymorphisms of the TH gene may be involved in the pathogenesis of neuropsychiatric diseases such as schizophrenia, affective disorders, and Parkinsonism (1). Catecholamines that are produced by the catecholamine biosynthetic pathway, in which tyrosine hydroxylase catalyzes the initial, rate-limiting step, include dopamine, noradrenaline, and adrenaline. These 3 catecholamines are important neurotransmitters and hormones that regulate visceral functions, motor coordination, and arousal in adults. The TH gene becomes transcriptionally active in developing neuroblasts during midgestation of rodent embryos, before the onset of neurotransmission (2). Tyrosine hydroxylase catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine (3).REFERENCES1. Knappskog PM, et al. Hum Mol Genet 4(7):1209-12, 19952. Zhou, QY et al. Nature 374:640-643, 19953. Kunugi H, et al. Am J Med Genet 81(2):131-3, 1998 |