A Narrative Review of the Role of Transthyretin in Health and Disease.
A Narrative Review of the Role of Transthyretin in Health and Disease.
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DOI：
10.1007/s40120-020-00217-0
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发表时间：
2020-12
影响因子：
3.7
通讯作者：
Obici L
中科院分区：
文献类型：
--
作者：
Liz MA;Coelho T;Bellotti V;Fernandez-Arias MI;Mallaina P;Obici L
甲状腺素运载蛋白（TTR）是一种在脊椎动物进化过程中高度保守的四聚体转运蛋白，在肝脏、脉络丛和视网膜色素上皮中合成。TTR转运甲状腺激素甲状腺素和与视黄醇（维生素A）结合的视黄醇结合蛋白（RBP）。TTR中的突变与遗传性甲状腺素运载蛋白淀粉样变性（ATTRv）相关，ATTRv是一种进行性的使人衰弱的疾病，其最终是致命的，并且特征在于TTR的错误折叠和聚集为淀粉样纤维，主要导致心肌病或多发性神经病，这取决于特定的TTR突变。甲状腺素运载蛋白淀粉样心肌病也可以作为由野生型TTR的错误折叠引起的年龄相关疾病而发生。除了它的运输作用外，对TTR可能的其他生理功能知之甚少。来自TTR通过基因敲除被破坏的动物模型系统的证据增加了我们对TTR功能的累积理解。越来越多的证据表明，TTR可能在神经保护和促进神经突起生长中起作用。在这里，我们回顾文献描述的潜在作用TTR在神经生物学和病理生理学的疾病比ATTR淀粉样变性。更好地理解这些过程也可能有助于进一步阐明ATTR的病理学和TTR相关疾病的潜在治疗效果。
Transthyretin (TTR) is a tetrameric transport protein highly conserved through vertebrate evolution and synthesized in the liver, choroid plexus, and retinal pigment epithelium. TTR transports the thyroid hormone thyroxine and the retinol-binding protein (RBP) bound to retinol (vitamin A). Mutations in TTR are associated with inherited transthyretin amyloidosis (ATTRv), a progressive, debilitating disease that is ultimately fatal and is characterized by misfolding of TTR and aggregation as amyloid fibrils, predominantly leading to cardiomyopathy or polyneuropathy depending on the particular TTR mutation. Transthyretin amyloid cardiomyopathy can also occur as an age-related disease caused by misfolding of wild-type TTR. Apart from its transport role, little is known about possible additional physiological functions of TTR. Evidence from animal model systems in which TTR has been disrupted via gene knockout is adding to our cumulative understanding of TTR function. There is growing evidence that TTR may have a role in neuroprotection and promotion of neurite outgrowth in response to injury. Here, we review the literature describing potential roles of TTR in neurobiology and in the pathophysiology of diseases other than ATTR amyloidosis. A greater understanding of these processes may also contribute to further clarification of the pathology of ATTR and the effects of potential therapies for TTR-related conditions.
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影响因子：
4.8
作者：
Eneqvist, T;Lundberg, E;Sauer-Eriksson, AE
通讯作者：
Sauer-Eriksson, AE
DOI：
10.1073/pnas.0712197105
发表时间：
2008-02-19
影响因子：
11.1
作者：
Buxbaum, Joel N.;Ye, Zhengyi;Bartfai, Tamas
通讯作者：
Bartfai, Tamas
影响因子：
6
作者：
Coelho T;Maia LF;da Silva AM;Cruz MW;Planté-Bordeneuve V;Suhr OB;Conceiçao I;Schmidt HH;Trigo P;Kelly JW;Labaudinière R;Chan J;Packman J;Grogan DR
通讯作者：
Grogan DR
影响因子：
15.1
作者：
Li X;Buxbaum JN
通讯作者：
Buxbaum JN
影响因子：
14.5
作者：
ANDRADE, C
通讯作者：
ANDRADE, C