Thyroid hormone transporters

被引:18
作者
Visser, Theo J. [1 ]
机构
[1] Erasmus Univ, Med Ctr, Dept Internal Med, NL-3015 GE Rotterdam, Netherlands
关键词
thyroid hormone; iodothyronines; transporter; monocarboxylate transporter 8; psychomotor retardation;
D O I
10.1159/000110469
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: Cellular uptake and release of thyroid hormone are mediated by transporters. Among these, monocarboxylate transporter 8 (MCT8) shows particularly high activity towards the active thyroid hormone 3,3',5-triiodothyronine (T-3) MCT8 is expressed in different tissues, including the brain where it is predominantly localized in neurons. The MCT8 gene is located on the X chromosome. Conclusions: Mutations in MCT8 have been identified in boys with severe psychomotor retardation who also have very high serum T-3 levels. Thyroid hormone is crucial for brain development, and mutations in MCT8 prevent the access of T-3 to its main target cells. Thus, mutations in MCT8 represent a novel mechanism for the pathogenesis of thyroid hormone resistance. Copyright (c) 2007 S. Karger AG, Basel.
引用
收藏
页码:28 / 30
页数:3
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