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N Lucarini

Publications and source records attributed to N Lucarini.

At least 37 records · Page 2Linked to original sources
PubMed1996

Phosphotyrosine-protein-phosphatases and human reproduction: an association between low molecular weight acid phosphatase (ACP1) and spontaneous abortion.

ACP1 (low molecular weight acid phosphatase) genetic polymorphism has been studied in 173 women with a history of two or more consecutive spontaneous abortions and in 1508 control subjects, including 482 normal pregnant women. The proportion of carriers of ACP1*C allele (*A/ *C, *B/*C) in women with a history of repeated spontaneous abortion is lower than in normal pregnant women and other control groups. Women with repeated spontaneous abortion show a specific decrease of ACP1 S isoform concentration as compared to normal pregnant women. The other component of ACP1 activity, the F isoform, does not show a significant difference between the two groups. The data suggest that women with ACP1 genotypes showing a high concentration of S isoform are relatively 'protected' against spontaneous abortion. Preliminary analysis of a sample of 352 normal puerperae along with their newborn babies supports this hypothesis.

Abortion, Habitual↗
PubMed1995

Interaction between ABO blood groups and ADA genetic polymorphism during intrauterine life. A comparative analysis of couples with habitual abortion and normal puerperae delivering a live-born infant.

A total of 203 couples with unexplained habitual abortions and 364 consecutive normal puerperae along with their live-born babies were studied. The analysis of wife-husband joint ABO blood group distribution in couples with habitual abortion showed an excess of A incompatible mating type and a defect of B incompatible type as compared with expected proportions assuming random mating. The joint wife-husband ABO blood group distribution was further analysed in relation to the adenosine deaminase (ADA) genotype. A defect of O-A and A-O couples when the wife carries the ADA*1/*1 genotype and the husband carries the ADA*2 allele, and a defect of O-O and A-A when the wife carries the ADA*2 allele were observed. In the sample of normal puerperae, analysis of the joint mother-newborn ABO distribution in relation to the ADA genotype showed a pattern similar to that observed in couples with habitual abortion, i.e. there is a defect of O-A and A-O when the mother carries the ADA*1/*1 genotype and the newborn carries the ADA*2 allele and a defect of O-O and A-A types when the mother carries the ADA*2 allele. Altogether the data suggest an early loss of O-A and A-O zygotes when they carry the ADA*2 allele and an early loss of O-O and A-A zygotes when the mother carries the ADA*2 allele resulting in a deficit of these zygotic classes among both spontaneously aborted fetuses and live-born infants. The pattern of association observed in the mother-fetus type O-A (incompatible according to conventional terminology) appears similar to that observed for the reciprocal A-O type (compatible according to conventional terminology). Therefore strictly conventional immunological mechanisms cannot explain the whole pattern of associations. Cell to cell intereactions involving ABO antigens may have an important role at implantation: ADA, through the control of local adenosine concentration, could modulate these interactions influencing the probability of successful implantation.

ABO Blood-Group System↗
PubMed1994

Haptoglobin development in newborn infants from diabetic mothers.

Haptoglobin (Hp) development during the neonatal period has been studied in 325 newborn infants from normal pregnancies and in 242 infants from diabetic mothers. In infants from diabetic mothers Hp development is delayed as compared to infants from normal pregnancies. This delay is associated with a change in the pattern of relationship between Hp development and the polymorphism of acid phosphatase (ACP1) (an enzyme which shows phosphotyrosine phosphatase (PTPase) activity). In infants from normal pregnancies who show ACP1 phenotypes with the highest activity, the appearance of Hp is accelerated as compared to other infants. In contrast, infants from diabetic pregnancies who have ACP1 phenotypes with the highest activity, show delayed Hp development.

Acid Phosphatase↗
PubMed1994

Genetic and non genetic factors in the outcome of diabetic pregnancy.

In insulin-dependent diabetes mellitus, maternal Phosphoglucomutase genotype is a predictor of fetal macrosomia much more important than quality of metabolic control during pregnancy. In gestational diabetes and in non insulin-dependent diabetes, on the contrary, the most important predictor is the metabolic control of diabetes.

Case-Control Studies↗
PubMed1994

Evidence of selection on PGM1 polymorphism in diabetic pregnancy.

Ninety-nine pregnant women with insulin-dependent diabetes mellitus, 83 women with gestational diabetes, and a control sample of 315 nondiabetic consecutive puerperae have been studied along with their newborn infants. Neonatal macrosomia is less frequent among diabetic mothers with phosphoglucomutase (PGM1) genotype PGM1*1/*2 than among mothers with other PGM1 genotypes. In gestational diabetes the association is more evident among younger women than among older women. Diabetic women with the PGM1*1/*2 genotype show a reduced proportion of heterozygous PGM1*1/*2 offspring. The phenomenon is much more evident among women under 28 years of age and does not depend on the quality of metabolic control. The data suggest that when both mother and fetus share the PGM1*1/*2 genotype, the deleterious effects of a diabetic environment on fetal development are more severe, leading to an early loss of zygotes. This may contribute to a decrease incidence of macromosomia among live-born infants delivered by PGM1*1/*2 mothers.

Adult↗
PubMed1994

Is there a genetic basis for gestational diabetes?

Rh E-PGM1 (phosphoglucomutase locus 1) joint genotype frequencies (chromosome 1) have been determined in 90 women with gestational diabetes mellitus (GDM) and in 140 pregnant women with preexisting insulin-dependent diabetes mellitus (IDDM) and non-insulin-dependent diabetes mellitus (NIDDM). The pattern of Rh E-PGM1 association differs among types of diabetes. The distortion of the pattern tends to assume opposite values in GDM and NIDDM and this is particularly evident in PGM1*2,2 subjects. The proportion of PGM1*2,2 subjects homozygous for the Rh e allele is higher in GDM than in IDDM and NIDDM. IDDM women show an intermediate proportion and NIDDM women show the lowest proportion of this genotype. The opposite pattern is observed among PGM1*2,2 subjects carrying the Rh E allele. Genotype frequencies of the hypervariable region flanking the insulin gene (chromosome 11) have been determined in 77 women with GDM, in 52 pregnant women with preexisting diabetes (IDDM and NIDDM), and in 62 normal adults. In GDM and NIDDM subjects the frequencies are similar. In IDDM women the frequency of homozygotes for the class 1 allele is higher than the frequency found in GDM and NIDDM women. The data suggest a possible genetic basis for the differentiation of a subclass of GDM from both IDDM and NIDDM.

Adult↗
PubMed1991

Role of genetic variability in neonatal jaundice. A prospective study on full-term, blood group-compatible infants.

A series of genetic, developmental and environmental variables have been analyzed in a prospective sample of full-term newborn babies, compatible with their mothers in the major blood group systems, in order to attempt an evaluation of the effect of these variables on serum bilirubin level during the first few days of life. Three genetic factors (PGM1, ACP1 and ADA) and three non-genetic variables (rise of bilirubin level during the first day of life, a mother with a history of previous abortion, and use of alcoholic beverages by the mother) have a significant predictive value for the separation of newborns with clinically relevant jaundice from other infants.

Acid Phosphatase↗
PubMed1991

Evidence of selective interaction between adenosine deaminase and acid phosphatase polymorphisms in fetuses carried by diabetic women.

Possible selective interaction between genetic polymorphisms of acid phosphatase locus 1 (ACP1) and adenosine deaminase (ADA) has been investigated in a sample of 211 infants from diabetic women, and in 350 consecutive infants from normal women. Newborns from diabetic pregnancies carrying the ADA2 allele show a lower proportion of BA and CB phenotypes (heterozygotes for the main allele of ACP1 system), compared with both their mothers and normal infants. The observation suggests that, in a diabetic environment, intrauterine selection may act against double heterozygotes for the ACP1 and ADA systems.

Acid Phosphatase↗
PubMed1990

A possible genetic component of obesity in childhood. Observations on acid phosphatase polymorphism.

Phenotypes of acid phosphatase with low enzymatic activity (ACP1 A and BA) are correlated with the highest degree of body mass increase observed in a sample of obese children. Since acid phosphatase probably functions as a flavin-mononucleotide phosphatase, differential modulation of flavo-enzyme activity and energy metabolism due to acid phosphatase genetic variability may explain the observed association.

Acid Phosphatase↗
PubMed1990

Red cell and serum polymorphisms in the Oltrepò Pavese population (northern Italy).

A sample of about 300 subjects from the Italian population of the Oltrepò Pavese, in Lombardy, was studied for 6 polymorphic genetic markers: ACP1, ADA, ESD, GLO1, PGM1 subtyping and HP. The observed gene frequencies were: ACP1*A = .267, ACP1*B = .697, ACP1*C = .036; ADA*2 = .060; ESD*2 = .119; GLO1*1 = .375; PGM1*1S = .688, PGM1*1F = .095, PGM1*2S = .175, PGM1*2F = .042; HP*1 = .362.

Blood Proteins↗
PubMed1990

Enzyme polymorphism and clinical variability of diseases: study of acid phosphatase locus 1 (ACP1) in obese subjects.

The ACP1*A allele of erythrocyte acid phosphatase (ACP1) has a lower enzymatic activity when compared to other ACP1 alleles and is associated with maximal rate of body growth during intrauterine life. In three different samples of obese subjects (total number = 218). ACP1*A was associated with extreme body mass deviations. No difference in ACP1 allele distribution was observed between obese and nonobese subjects. These data suggest that a genetically determined variability of ACP1 influences the degree of obesity, but only when obesity itself has been triggered by some other factors.

Acid Phosphatase↗
PubMed1989

Erythrocyte acid phosphatase (ACP1) activity. In vitro modulation by adenosine and inosine and effects of adenosine deaminase (ADA) polymorphism.

Erythrocyte acid phosphatase (ACP1) activity was determined in the absence of modulators and in the presence of either adenosine or inosine as modulators in 154 samples of red blood cells collected from adult donors. Adenosine and inosine showed modulating effects (activation), that were genotype dependent in the allele order pb less than pa less than pc; the activation by inosine was much higher than by adenosine. The modulating effect was dependent on adenosine deaminase (ADA) genotype: In carriers of ADA2 allele the activation with ACP1 phenotype A was lower and that with phenotypes CA and CB was higher than in ADA1/ADA1 subjects. In addition, the basic ACP1 activity (i.e., without modulators) also appeared to be dependent on ADA genotype: The lowest ACP1 activity was observed in A and BA subjects carrying the ADA2 allele. Since the deamination of adenosine to inosine associated with ADA2-1 phenotype is slower than that associated with ADA1, the interaction of ADA on ACP1 activity may in fact be explained by a lower intracellular concentration of inosine in ADA2 carriers and, therefore, by a lower modulating effect of this on acid phosphatase activity.

Acid Phosphatase↗
PubMed1989

Enzyme activity and distribution of adenosine deaminase types in a population of central Italy.

Blood samples from 718 unrelated individuals born in municipalities of the 'Alto Maceratese' region in central Italy were examined for adenosine deaminase (ADA). The allele frequencies for ADA*1 and ADA*2 were 92.48 and 7.45%, respectively. One case of the rare ADA 5-1 phenotype was observed. The observed phenotype distribution agreed well with the one expected assuming a Hardy-Weinberg equilibrium. Enzyme activity was measured in red blood cells from individuals with different phenotypes. The relationships between the enzyme activity of the phenotypes was found to be ADA 1 greater than ADA 2-1 greater than ADA 2 greater than ADA 5-1.

Adenosine Deaminase↗
PubMed1989

Enzyme variability and neonatal jaundice. The role of adenosine deaminase and acid phosphatase.

A sample of children treated by phototherapy during the neonatal period has been studied in the population of Penne (South Eastern Italy) in order to confirm the association previously reported in newborns from the population of Rome between neonatal jaundice and phenotypes of adenosine deaminase (ADA) and acid phosphatase (ACP1). The present data confirm that the incidence of clinically relevant jaundice is much greater in newborns of phenotype ACP1 BA carrying ADA2 allele than in other infants. Since ACP1 probably acts as flavin mononucleotide phosphatase and is modulated by purine nucleotides, it is likely that enzymes of purine nucleotide metabolism (including ADA), ACP1 and flavoenzymes (including gluthatione reductase and enzymes of Krebs cycle), may represent a polygenic complex influencing bilirubin levels in the first few days of life.

Acid Phosphatase↗
PubMed1989

Enzyme polymorphism and clinical variability of diseases: a study of diabetes mellitus.

We investigated possible relations among four common neonatal manifestations of diabetic pregnancy (macrosomia, hypoglycemia, hypocalcemia, jaundice) and four enzyme polymorphisms (PGM1, ADA, AK1, ACP1 in a sample of infants born of diabetic mothers. The pattern of associations observed between the two sets of variables is consistent with known differences in enzymatic activity within phenotypes of each system, suggesting that low enzymatic activity may have unfavorable effects on fetal development and on adaptability of the neonate to the extrauterine environment, Some of the polymorphic enzymes studied influence fetal growth in normal pregnancy as well. Analysis of relations between genetic polymorphisms and the clinical pattern of common diseases may provide a better understanding of the genetic basis of the clinical variability of diseases within and between human populations.

Diabetes Mellitus↗