Groeneweg Stefan, Visser W Edward, Visser Theo J
Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):241-253. doi: 10.1016/j.beem.2017.05.001. Epub 2017 May 24.
Transport of thyroid hormone (TH) across the plasma membrane is essential for intracellular TH metabolism and action, and this is mediated by specific transporter proteins. During the last two decades several transporters capable of transporting TH have been identified, including monocarboxylate transporter 8 (MCT8), MCT10 and organic anion transporting polypeptide 1C1 (OATP1C1). In particular MCT8 and OATP1C1 are important for the regulation of local TH activity in the brain and thus for brain development. MCT8 is a protein containing 12 transmembrane domains, and is encoded by the SLC16A2 gene located on the X chromosome. It facilitates both TH uptake and efflux across the cell membrane. Male subjects with hemizygous mutations in MCT8 are afflicted with severe intellectual and motor disability, also known as the Allan-Herndon-Dudley syndrome (AHDS), which goes together with low serum T4 and high T3 levels. This review concerns molecular and clinical aspects of MCT8 function.
甲状腺激素（TH）跨质膜转运对于细胞内TH代谢和作用至关重要，且这一过程由特定转运蛋白介导。在过去二十年中，已鉴定出几种能够转运TH的转运蛋白，包括单羧酸转运蛋白8（MCT8）、MCT10和有机阴离子转运多肽1C1（OATP1C1）。特别是MCT8和OATP1C1对于调节大脑局部TH活性进而对于大脑发育很重要。MCT8是一种含有12个跨膜结构域的蛋白质，由位于X染色体上的SLC16A2基因编码。它促进TH跨细胞膜的摄取和流出。MCT8基因半合子突变的男性受试者患有严重的智力和运动残疾，也称为艾伦 - 赫恩登 - 达德利综合征（AHDS），该综合征伴有低血清T4和高T3水平。本综述涉及MCT8功能的分子和临床方面。
