治疗甲状腺激素转运体 MCT8 缺乏症:成就与挑战。

IF 3.5 2区 医学 Q2 ENDOCRINOLOGY & METABOLISM European Thyroid Journal Pub Date : 2024-11-20 Print Date: 2024-12-01 DOI:10.1530/ETJ-24-0286
Boyka Markova, Steffen Mayerl, Heike Heuer
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引用次数: 0

摘要

甲状腺激素(TH)转运体 MCT8 不活跃的患者(Allan-Herndon-Dudley 综合征,AHDS)表现出严重的神经损伤和运动障碍,这表明 MCT8 在促进 TH 进入人脑方面具有不可或缺的功能。因此,AHDS 患者的中枢神经系统似乎处于 TH 缺乏状态,这极大地损害了正常的神经发育和功能。该病的另一个特征是患者血清 T3 水平升高,导致外周组织甲状腺功能亢进。目前已开发出多种治疗策略,并在临床前小鼠模型和患者身上进行了评估。在此,我们将讨论克服 MCT8 缺乏症的这些不同治疗方法,并总结目前在改善缺乏 MCT8 的大脑成熟方面所取得的成就和面临的挑战。
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Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.

Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan-Herndon-Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the human brain. Consequently, the CNS of AHDS patients appears to be in a TH deficient state, which greatly compromises proper neural development and function. Another hallmark of this disease is that patients exhibit elevated serum T3 levels, leading to a hyperthyroid situation in peripheral tissues. Several treatment strategies have been developed and evaluated in preclinical mouse models as well as in patients. Here, we discuss these different therapeutic approaches to overcome MCT8 deficiency and summarize the current achievements and challenges in improving brain maturation in the absence of MCT8.

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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.
期刊最新文献
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