Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism
复制标题
I 型假性醛固酮增多症中盐皮质激素受体的失活突变
DOI：
10.1016/j.mce.2003.10.017
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发表时间：
2004
影响因子：
4.1
通讯作者：
M. Zennaro
中科院分区：
文献类型：
--
作者：
Paola Sartorato;Y. Khaldi;Anne;D. Armanini;Ursula Kuhnle;Rémi Salomon;Massimiliano Caprio;S. Viengchareun;Marc Lombès;M. Zennaro
I型假性醛固酮减少症（PHA1）是一种罕见的盐皮质激素抵抗形式，其特征是新生儿肾性盐耗和发育不良。典型的生化特征包括高水平的血浆醛固酮和肾素、低钠血症和高钾血症。人类盐皮质激素受体（hMR）基因的不同突变已被确定在受常染色体显性或散发形式的疾病。我们的实验室已经调查了大量的家庭和散发性PHA1受试者。已经检测到几种不同的突变，它们位于hMR基因的不同编码外显子中。这些突变要么产生截短的蛋白质，要么影响参与受体功能的特定氨基酸。在本文中，我们回顾了迄今为止在PHA1中描述的hMR突变及其功能表征。我们讨论的突变的情况下，在一些激酶和精确的表型和患者的生物学检查的作用，以允许识别其他基因可能参与疾病。
Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Typical biochemical features include high levels of plasma aldosterone and renin, hyponatremia and hyperkalemia. Different mutations of the human mineralocorticoid receptor (hMR) gene have been identified in subjects affected by the autosomal dominant or sporadic form of the disease. Our laboratory has investigated a large number of subjects with familial and sporadic PHA1. Several different mutations have been detected, which are localized in different coding exons of the hMR gene. These mutations either create truncated proteins, either affect specific amino acids involved in receptor function. In this paper, we review hMR mutations described to date in PHA1 and their functional characterization. We discuss the absence of mutations in some kindreds and the role of precise phenotypic and biological examination of patients to allow for identification of other genes potentially involved in the disease.
DOI：
10.1073/pnas.96.5.2514
发表时间：
1999-03-02
影响因子：
11.1
作者：
Chen, SY;Bhargava, A;Pearce, D
通讯作者：
Pearce, D