Department of Biological Sciences, Birla Institute of Technology and Science, Hyderabad Campus, Pilani, Andhra Pradesh, 500078, India.
Metabolic Diseases and Research Unit, Apollo Hospitals, Bangalore, India.
Autism Res. 2017 Dec;10(12):1919-1928. doi: 10.1002/aur.1838. Epub 2017 Aug 30.
Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TRα and TRβ. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919-1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc.
Thyroid hormone (T3) and thyroid receptors (TRα and TRβ) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied.
自闭症谱系障碍（ASD）是一种神经发育障碍，据报道在过去二十年中呈上升趋势。甲状腺激素 T3 在早期胚胎和中枢神经系统发育中起着重要作用。T3 通过与甲状腺激素受体 TRα 和 TRβ 结合来发挥其功能。T3 水平的改变和甲状腺受体突变早些时候被牵连到神经精神疾病中，并与环境毒素有关。早期研究的有限报告表明，T3 治疗对 ASD 儿童有效，且这些儿童的甲状腺激素水平也正常。这就需要探索 ASD 儿童甲状腺激素途径成分的遗传变异。为了实现这一目标，我们对来自印度的 30 名 ASD 患者和年龄匹配的对照组的 THRA 和 THRB 受体基因的配体结合域进行了遗传分析。我们的研究首次报道了 ASD 个体中 THRA 和 THRB 受体基因的新的单核苷酸多态性。自闭症研究 2017，10：1919-1928。©2017 自闭症国际研究协会，威利期刊，公司。
甲状腺激素（T3）和甲状腺受体（TRα 和 TRβ）是甲状腺激素途径的主要成分。甲状腺途径与神经元发育之间的联系在临床医学中已得到证明。由于自闭症儿童的甲状腺激素水平正常，因此需要探索其受体的变异。为了实现这一目标，研究了来自印度的 30 名 ASD 和正常儿童的 THRA 和 THRB 受体基因的变化。还研究了这些突变中的一些对受体功能的影响。
