相关实验视频
Updated: Jun 20, 2025
04:39
Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
1.6K
临床和分子研究的患者甲状腺dyshormogenesis和变异在甲状腺球蛋白基因
Mónica Fernández-Cancio1,2, María Antolín3,4, María Clemente1,2,5,6
1Growth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Frontiers in endocrinology
|July 23, 2024
概括
甲状腺缺激激素 (THD) 来自甲状腺蛋白 (TG) 基因变异导致先天性甲状腺功能低下症 (CH). 高通量测序在19名患者中发现了21种TG变异,其中包括10种新型变异,解释了各种CH表型.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 分子生物学分子生物学
背景情况:
- 甲状腺激素失调 (THD) 是由甲状腺激素合成缺陷引起的.
- 甲状腺蛋白 (TG) 基因变异是先天性甲状腺功能低下症 (CH) 的重要原因,具有严重程度的范围.
- 了解TG变体对于诊断和管理CH至关重要.
研究的目的:
- 为了确定与甲状腺激素生成 (THD) 和先天性甲状腺功能低下症 (CH) 现型相关的甲状腺蛋白 (TG) 基因变异.
- 分析CH患者队列中新型和已知的TG变体的高通量测序数据.
主要方法:
- 高通量测序面板针对甲状腺激素调节中的关键基因.
- 在19名患有先天性甲状腺功能低下症 (CH) 的患者中分析了21种TG基因变异.
- 在停止LT4治疗后对患者的表型相关性和重新评估.
主要成果:
- 在19名患者中鉴定了21种TG基因变异 (11.8%),其中10种变异之前未被描述.
- 所有19名患者都出现了生化严重的CH.
- 重新评估显示,TG变体的患者的一个子组中存在永久性甲状腺功能低下症 (严重8,轻度5).
结论:
- 确定了10种新型和11种已知的TG基因变异,在一个大队列中对THD和CH表型作出贡献.
- TG变体可以解释一系列的CH严重程度,从轻微到严重的永久性甲状腺功能低下症.
- 高通量测序在识别导致先天性甲状腺功能低下症的TG变异方面是有效的.
相关概念视频
01:20Synthesis and Regulation of Thyroid Hormones
4.4K
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
4.4K
01:18Functions of Thyroid Hormones
2.7K
The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
2.7K
01:23The Thyroid Gland
3.8K
The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
3.8K