Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain.
Eur Thyroid J. 2024 Mar 19;13(2). doi: 10.1530/ETJ-23-0241. Print 2024 Apr 1.
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.
甲状腺激素在不同感觉系统的发育和功能中起着重要作用。为了发挥作用,甲状腺激素需要通过跨膜转运蛋白进入靶细胞,其中单羧酸转运蛋白 8(MCT8)因其病理生理学相关性而引人注目。编码 MCT8 的基因突变导致 Allan-Herndon-Dudley 综合征(AHDS),这是一种罕见的疾病,其特征是严重的神经运动和认知障碍。MCT8 缺乏对 AHDS 患者神经感觉能力的影响尚不清楚,只有少数患者出现视觉和听觉障碍。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,这可能有助于确定 MCT8 缺乏患者潜在的神经感觉改变。