丧失人类激肽释放酶基因的多态性与减少尿激肽释放酶的活动。
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苗条的R, Torremocha F,莫罗T Pizard A,亨特SC, Vuagnat,威廉姆斯GH, Gauthier F, Jeunemaitre X, Alhenc-Gelas F
丧失人类激肽释放酶基因的多态性与减少尿激肽释放酶的活动。
J Soc Nephrol。2002年4月,13 (4):968 - 76。
- PubMed ID
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11912256 (在PubMed]
- 文摘
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激肽释放酶是合成的远端小管和产生细胞分裂素,这是参与肾脏血管张力的调节。尿激肽释放酶活动报道在一定程度上继承和减少原发性高血压。系统搜索人类激肽释放酶的分子变异基因,确定了9个单核苷酸多态性。五的多态性,包括两个外显子3中产生的替换,也就是说。,Arg53His(等位基因频率在高加索,0.03)和Gln121Glu(等位基因频率,0.33),研究了在正常血压组和两个独立的高血压组的24小时尿激肽释放酶活性被测量。显著减少尿激肽释放酶活动观察受试者Arg53His多态性的杂合的,与其他科目相比。这一发现是一致的在两个观察高血压组和激肽释放酶酶化验。Gln121Glu多态性和其他相关多态性不是尿激肽释放酶活性的变化。没有一个多态性与高血压有关。激肽释放酶重组变异是合成和酶学特征,使用本机激肽原和kininogen-derived合成肽底物。 No important effect was observed after Gln121 mutation, but there was a major decrease in enzyme activity when Arg53 was replaced by histidine. A model of kallikrein derived from crystallographic data suggested that Arg53 can affect substrate binding. The identification of a subset of subjects with genetically reduced kallikrein activity as a result of an amino acid mutation could facilitate analysis of the role of the kallikrein-kinin system in renal and vascular diseases.