The syndromes of reduced sensitivity to thyroid hormone

被引:156
作者
Dumitrescu, Alexandra M. [1 ]
Refetoff, Samuel [1 ,2 ,3 ]
机构
[1] Univ Chicago, Dept Med, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Paediat, Chicago, IL 60637 USA
[3] Univ Chicago, Comm Genet, Chicago, IL 60637 USA
来源
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS | 2013年 / 1830卷 / 07期
基金
美国国家卫生研究院;
关键词
Nuclear receptor; Selenoprotein; Deiodinase; Monocarboxylate transporter 8; Resistance to thyroid hormone; SECIS-binding protein 2; RECEPTOR-BETA-GENE; MONOCARBOXYLATE TRANSPORTER-8 GENE; HERNDON-DUDLEY-SYNDROME; DEFICIT HYPERACTIVITY DISORDER; LIGAND-BINDING DOMAIN; GENERALIZED RESISTANCE; TR-BETA; PITUITARY-RESISTANCE; CLINICAL PHENOTYPE; TARGETED DISRUPTION;
D O I
10.1016/j.bbagen.2012.08.005
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Background: Six known steps are required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps, human mutations and distinct phenotypes have been identified. Scope of review: The clinical, laboratory, genetic and molecular characteristics of these three defects of TH action are the subject of this review. The first defect, recognized 45 years ago, produces resistance to TH and carries the acronym, RTH. In the majority of cases it is caused by TH receptor beta gene mutations. It has been found in over 3000 individuals belonging to approximately 1000 families. Two relatively novel syndromes presenting reduced sensitivity to TH involve membrane transport and metabolism of TH. One of them, caused by mutations in the TH cell-membrane transporter MCT8, produces severe psychomotor defects. It has been identified in more than 170 males from 90 families. A defect of the intracellular metabolism of TH in 10 individuals from 8 families is caused by mutations in the SECISBP2 gene required for the synthesis of selenoproteins, including TH deiodinases. Major conclusions: Defects at different steps along the pathway leading to TH action at cellular level can manifest as reduced sensitivity to TH. General significance: Knowledge of the molecular mechanisms involved in TH action allows the recognition of the phenotypes caused by defects of TH action. Once previously known defects have been ruled out, new molecular defects could be sought, thus opening the avenue for novel insights in thyroid physiology. This article is part of a Special Issue entitled Thyroid hormone signaling. (C) 2012 Elsevier B.V. All rights reserved.
引用
收藏
页码:3987 / 4003
页数:17
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