Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan-Herndon-Dudley syndrome.

IF 3.5 2区 医学 Q2 ENDOCRINOLOGY & METABOLISM
European Thyroid Journal Pub Date : 2024-03-19 Print Date: 2024-04-01 DOI:10.1530/ETJ-23-0241
Ángel García-Aldea, Marina Guillén-Yunta, Víctor Valcárcel-Hernández, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz, Soledad Bárez-López
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Abstract

Thyroid hormones play an important role during the development and functioning of the different sensory systems. In order to exert their actions, thyroid hormones need to access their target cells through transmembrane transporter proteins, among which the monocarboxylate transporter 8 (MCT8) stands out for its pathophysiological relevance. Mutations in the gene encoding for MCT8 lead to the Allan-Herndon-Dudley syndrome (AHDS), a rare disease characterised by severe neuromotor and cognitive impairments. The impact of MCT8 deficiency in the neurosensory capacity of AHDS patients is less clear, with only a few patients displaying visual and auditory impairments. In this review we aim to gather data from different animal models regarding thyroid hormone transport and action in the different neurosensory systems that could aid to identify potential neurosensorial alterations in MCT8-deficient patients.

甲状腺激素转运在神经感觉器官中的作用及对阿兰-赫顿-达德利综合征的影响。
甲状腺激素在不同感觉系统的发育和运作过程中发挥着重要作用。为了发挥其作用,甲状腺激素需要通过跨膜转运蛋白进入靶细胞,其中单羧酸盐转运蛋白8(MCT8)因其病理生理学相关性而脱颖而出。编码 MCT8 的基因发生突变会导致阿兰-赫顿-达德利综合征(AHDS),这是一种以严重神经运动和认知障碍为特征的罕见疾病。MCT8缺乏症对AHDS患者神经感觉能力的影响尚不明确,只有少数患者表现出视觉和听觉障碍。在这篇综述中,我们旨在从不同的动物模型中收集有关甲状腺激素在不同神经感觉系统中的转运和作用的数据,以帮助确定MCT8缺乏症患者潜在的神经感觉改变。
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来源期刊
European Thyroid Journal
European Thyroid Journal Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
6.70
自引率
2.10%
发文量
156
期刊介绍: The ''European Thyroid Journal'' publishes papers reporting original research in basic, translational and clinical thyroidology. Original contributions cover all aspects of the field, from molecular and cellular biology to immunology and biochemistry, from physiology to pathology, and from pediatric to adult thyroid diseases with a special focus on thyroid cancer. Readers also benefit from reviews by noted experts, which highlight especially active areas of current research. The journal will further publish formal guidelines in the field, produced and endorsed by the European Thyroid Association.
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