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多巴胺转运体在精神疾病表型中的作用。

The dopamine transporter role in psychiatric phenotypes.

作者信息

Salatino-Oliveira Angélica, Rohde Luis A, Hutz Mara H

机构信息

Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Division of Child and Adolescent Psychiatry, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2018 Mar;177(2):211-231. doi: 10.1002/ajmg.b.32578. Epub 2017 Aug 2.

Abstract

The dopamine transporter (DAT) is one of the most relevant and investigated neurotransmitter transporters. DAT is a plasma membrane protein which plays a homeostatic role, controlling both extracellular and intracellular concentrations of dopamine (DA). Since unbalanced DA levels are known to be involved in numerous mental disorders, a wealth of investigations has provided valuable insights concerning DAT role into normal brain functioning and pathological processes. Briefly, this extensive but non-systematic review discusses what is recently known about the role of SLC6A3 gene which encodes the dopamine transporter in psychiatric phenotypes. DAT protein, SLC6A3 gene, animal models, neuropsychology, and neuroimaging investigations are also concisely discussed. To conclude, current challenges are reviewed in order to provide perspectives for future studies.

摘要

多巴胺转运体(DAT)是最受关注且研究最多的神经递质转运体之一。DAT是一种质膜蛋白,发挥着稳态作用,控制多巴胺(DA)的细胞外和细胞内浓度。由于已知多巴胺水平失衡与多种精神障碍有关,大量研究为DAT在正常脑功能和病理过程中的作用提供了有价值的见解。简而言之,这篇广泛但非系统性的综述讨论了关于编码多巴胺转运体的SLC6A3基因在精神疾病表型中的作用的最新研究。还简要讨论了DAT蛋白、SLC6A3基因、动物模型、神经心理学和神经影像学研究。最后,对当前的挑战进行了综述,以便为未来的研究提供方向。

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