与帕金森病相关的儿茶酚胺相关酶的分子生物学
Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease.
作者信息
Nagatsu T, Ichinose H
机构信息
Institute for Comprehensive Medical Science, Graduate School of Medicine, Fujita Health University, Aichi, Japan.
出版信息
Cell Mol Neurobiol. 1999 Feb;19(1):57-66. doi: 10.1023/a:1006912523846.
Abstract
- Catecholamine (dopamine, norepinephrine, and epinephrine) biosynthesis is regulated by tyrosine hydroxylase (TH). TH activity is regulated by the concentration of the cofactor tetrahydrobiopterin (BH4), whose level is regulated by GTP cyclohydrolase I (GCH) activity. Thus, GCH activity indirectly regulates TH activity and catecholamine levels. 2. TH activity in the nigrostriatal dopaminergic neurons is most sensitive to the decrease in BH4. 3. Mutations of GCH result in reductions in GCH activity, BH4, TH activity, and dopamine, causing either recessively inherited GCH deficiency or dominantly inherited hereditary progressive dystonia [HPD; Segawa's disease; also called dopa-responsive dystonia (DRD)]. 4. In juvenile parkinsonism and Parkinson's disease, which have dopamine deficiency in the basal ganglia as HPD/DRD, the GCH gene may be normal, and the molecular mechanism of the dopamine deficiency in the basal ganglia is different from that in HPD/DRD.
摘要
- 儿茶酚胺（多巴胺、去甲肾上腺素和肾上腺素）的生物合成受酪氨酸羟化酶（TH）调控。TH活性受辅因子四氢生物蝶呤（BH4）浓度的调控，而BH4的水平由鸟苷三磷酸环化水解酶I（GCH）的活性调控。因此，GCH活性间接调控TH活性和儿茶酚胺水平。2. 黑质纹状体多巴胺能神经元中的TH活性对BH4的减少最为敏感。3. GCH突变导致GCH活性、BH4、TH活性及多巴胺减少，引起隐性遗传的GCH缺乏症或显性遗传的遗传性进行性肌张力障碍[HPD；Segawa病；也称为多巴反应性肌张力障碍（DRD）]。4. 在基底神经节多巴胺缺乏的青少年帕金森病和帕金森病中，与HPD/DRD一样，GCH基因可能正常，且基底神经节多巴胺缺乏的分子机制与HPD/DRD不同。
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