小说人类corticosteroid-binding球蛋白cortisol-binding亲和力较低的变体。

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Emptoz-Bonneton,表弟P, Seguchi K, Avvakumov问,欺负C,哈蒙德GL, Pugeat M

小说人类corticosteroid-binding球蛋白cortisol-binding亲和力较低的变体。

中国性金属底座。2000年1月,85 (1):361 - 7。

PubMed ID

10634411 (在PubMed

]

文摘

Corticosteroid-binding球蛋白(cbre)是等离子体运输蛋白,调节靶细胞糖皮质激素荷尔蒙的访问。cbre的遗传缺陷是罕见的,只有一个人类cbre变体(鲁汶Trancortin)迄今为止相关cortisol-binding亲和力下降。我们报告在一个43-yr-old女人,称为慢性衰弱和低血压,早上反复低血清皮质醇水平(22 - 61 nmol / L;正常范围,204 - 546 nmol / L),正常血浆ACTH水平(38-49 pg / mL;正常的,< 50 pg / mL),正常尿皮质醇(10 - 76 nmol / 24小时;正常范围,10 - 105 nmol / 24 h)。增加percent-free (dialysable分数)血清皮质醇(8.7 - -9.7%,正常范围内,2.9 -3.9%)建议cbre绑定异常活动。事实上,她有一个低血清cbre浓度(24 mg / L和44 + / 6 mg / L在正常女性),和她的亲和力cbre对皮质醇下降(缔合常数,Ka = 0.12 L / nmol vs 0.82 + / - -0.29 L / nmol)。在她的直系亲属,血清cbre浓度和cortisol-binding活动是正常的在她的丈夫,但生活的四个小孩有血清cbre浓度略低于参考范围的预处理和postpubertal地位。稀释血清皮质醇分布的测量表明,nonprotein-bound皮质醇的百分比的增加抵消了低皮质醇水平给大约正常自由血清中皮质醇的浓度。扩增外显子编码cbre菌进行直接测序显示多态性的渊源者是纯合子(GAC-AAC)在367年剩余的密码子,这导致Asp367 - - > Asn替换。 Her children were heterozygous for this polymorphism. When this nucleotide change was introduced into a normal human CBG complementary DNA, for expression in Chinese hamster ovary cells, Scatchard analysis demonstrated that the Asn367 substitution reduced the affinity of human CBG for cortisol by approximately 4-fold (Ka = 0.15 L/nmol), as compared to normal recombinant CBG (Ka = 0.66 L/nmol). These results suggest that Asp367 is an important determinant of CBG steroid-binding activity and that normal negative regulation of the hypothalamic-pituitary-adrenal axis is maintained by relatively normal serum-free cortisol concentrations, despite a marked reduction in the steroid-binding affinity of this novel human CBG variant, which we have designated as CBG-Lyon.

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药物载体

药物	航空公司	类	生物	药理作用	行动
Flurandrenolide	Corticosteroid-binding球蛋白	蛋白质	人类	未知的	粘结剂	细节

多肽

的名字	UniProt ID
Corticosteroid-binding球蛋白	P08185	细节