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 developmental 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.
Better air quality is associated with a rapid reduction of airway inflammation in allergic asthmatic children. Nasal eosinophils and fractional exhaled nitric oxide are sensitive indicators of this effect, and their rapid decline is paralleled by improved airway function measured by peak expiratory flow. Leukotriene synthesis has a more variable response to environmental modifications.
A positive association has recently been reported in adult subjects between O/nonSecretor phenotype and asthma. To confirm this association, this study investigated the joint ABO/Secretor phenotype in a cohort of 165 asthmatic children. Three-hundred and sixty-two consecutive newborn infants from the same population were also studied as controls.The proportion of O/nonSecretor in asthmatic children was higher than in controls, thus confirming the association found in adults. The association was more marked in males than in females. In males, the pattern of association between the joint ABO/ Secretor phenotype and asthma is dependent on the age at on-set of symptoms.Since the oligosaccharide composition of cell membrane and mucosal secretions is controlled by the cooperative interaction of ABO and Secretor genes, and since such composition influences the adhesion of infectious agents, the age pattern could reflect a more general interaction between developmental maturation and oligosaccharide structure concerning their effects on susceptibility to viral and bacterial agents. Eur Respir J 2001; 17: 1236-1238. The Secretor gene (FUT2) that encodes for a 2-alpha-L-fucosyltransferase and the ABO blood grouping system that encodes for glycosiltransferases, act in concert to build-up oligosaccharide structures in exocrine secretion systems, including the respiratory tract [1,2,3].Specific oligosaccharide epitopes are necessary for recognition of micro-organisms [4]. The product of ABO and Secretor genes seems to influence the adhesion of infectious agents, thus having a modulatory effect on viral and bacterial respiratory infection [3,5].A combined analysis of ABO blood groups and salivary Secretor phenotypes was recently performed in a cohort of coal miners. Lower lung function and higher prevalence of wheezing and asthma in nonSecretor subjects of blood group O was shown.The present study analysed the joint phenotype ABO/ Secretor in a cohort of asthmatic children in an attempt to confirm the association observed in adult subjects.
Subjects and methodsThe sample study is composed of 165 children, 109 males and 56 females, aged 1 month -15 yrs. The patients were observed in the outpatient paediatric pulmonary clinic of the University of Rome "La Sapienza" or were admitted to a ward of the same clinic for acute respiratory episodes. Both subsamples were consecutive.The criterion for inclusion in the study was a history of two or more episodes of wheezing in the last 6 months, irrespective of the aetiology/pathogenesis of the attack. A consecutive series of 362 newborn infants from the same population of Rome was considered as a control sample.ABO and Secretor phenotypes were determined according to standard laboratory procedures [6]. Differences of ABO and Secretor phenotype distribution between asthmatics and controls, and association between ABO and Secretor phenotypes were evaluated by the Chi-squared test of independence. Differences of the joint ABO/Secretor phenotype among age classes at on-set in asthm...
Low molecular weight acid phosphatase encoded by the highly polymorphic locus ACP1 is a member of the protein-tyrosin phosphatase family (PTPases) which plays an essential role in the control of receptor signalling through phosphotyrosine pathways. Recent experiments have shown that purified rat liver ACP, corresponding to human ACP1, is able to hydrolyze a phosphotyrosine-containing synthetic peptide corresponding to the 1146-1158 sequence of the human insulin receptor, and shows a high affinity for it. This prompted us to analyze the degree of glycemic control in relation to ACP1 genetic variability in a sample of 214 diabetic pregnant women including IDDM, NIDDM and gestational diabetes. The ACP1 genotype was also determined in 482 non-diabetic pregnant women. In diabetic women glycemic levels in the last trimester of pregnancy appear to be significantly associated with the ACP1 genotype, and correlate positively with ACP1 enzymatic activity. The data suggest that quantitative variations of ACP1 may influence the clinical manifestations of diabetic disorders, and call for further studies on the role of this enzyme in the modulation of insulin-receptor phosphotyrosine pathways.
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