ACP1 AND HUMAN ADAPTABILITY .1. ASSOCIATION WITH COMMON DISEASES - A CASE-CONTROL STUDY
ACP1 AND HUMAN ADAPTABILITY .1. ASSOCIATION WITH COMMON DISEASES - A CASE-CONTROL STUDY
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DOI：
10.1007/bf00210290
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发表时间：
1995-12-01
期刊：
影响因子：
5.3
通讯作者：
BORGIANI, P
中科院分区：
文献类型：
--
作者：
BOTTINI, E;GLORIABOTTINI, F;BORGIANI, P
人红细胞酸性磷酸酶（ACP1）是一种多态性酶，与胞质低分子量酸性磷酸酶密切相关，是一个在真核生物中广泛保守的蛋白质家族。已经提出了ACP 1的两种不同功能：黄素单核苷酸（FMN）磷酸酶和磷酸酪氨酸磷酸酶（PTP1）。鉴于ACP 1活性的遗传变异很常见，这种酶可能在调节大量细胞功能方面发挥作用，进而调节疾病易感性。在本论文中，我们报告了一项研究的ACP 1基因多态性在1088名正常人和1267名受试者的人口罗马入院的一些常见疾病。所有研究的ACP 1参数显示样品之间的差异非常显着，这表明该酶可能在某些疾病中发挥重要作用。特别是，已观察到ACP 1与发展性精神障碍和溶血性蚕豆病的一致关联。在大多数显示与ACP 1相关的疾病中，仅涉及两种ACP 1同种型之一，f和s，支持两种酶组分之间功能分化的假设。
Human red cell acid phosphatase (ACP1) is a polymorphic enzyme closely related to cytosolic low molecular weight acid phosphatases, a protein family broadly conserved among eukaryotes. Two different functions have been proposed for ACP1: flavin mononucleotide (FMN) phosphatase and phosphotyrosine phosphatase (PTPase). Given that genetic variants of ACP1 activity are common, the enzyme could have a role in regulating a large spectrum of cellular functions and, in turn, disease susceptibility. In the present paper we report a study of ACP1 genetic polymorphism in 1088 normal subjects and in 1267 subjects from the population of Rome admitted to hospital for a number of common diseases. All ACP1 parameters investigated show highly significant differences among samples, suggesting that the enzyme may have a significant role in some of the diseases considered. In particular, consistent associations of ACP1 with develop mental disturbances and with hemolytic favism have been observed. In the majority of diseases showing association with ACP1, only one of the two ACP1 isoforms, f and s, is involved, supporting the hypothesis of a functional differentiation between the two enzymatic fractions.