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Biomedical subjects

E Bottini

Publications and source records attributed to E Bottini.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1995

ACP1 and human adaptability. 1. Association with common diseases: a case-control study.

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.

Abortion, Habitual↗
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↗
PubMed1992

Interaction of porcine von Willebrand factor with the platelet glycoproteins Ib and IIb/IIIa complex.

Porcine von Willebrand factor (PvWF) induces platelet aggregation which is thought to be responsible for the thrombocytopenia that occurs in haemophilic patients treated with commercial preparations of porcine factor VIII. This study demonstrates that such aggregation can be completely inhibited by a monoclonal antibody against human platelet glycoprotein GPIb and partially inhibited by an antibody directed against platelet GPIIb/IIIa. The interaction of PvWF with GPIb is also demonstrated by the inhibitory effect of purified glycocalycin on aggregation. The binding site of PvWF to GPIb is very close to that of human vWF, since a recombinant peptide blocks the binding of both molecules to GPIb. When platelets are incubated with PvWF, the GPIIb/IIIa receptor is activated and binds fibrinogen. PvWF also binds to GPIIb/IIIa when platelets are stimulated with thrombin, suggesting that the molecule has the same RGD sequence as other adhesive proteins (human vWF, fibrinogen, fibronectin and vitronectin). These findings identify the dual mechanisms responsible for in vivo platelet aggregation induced by PvWF, i.e. binding to GPIb and activation of the GPIIb/IIIa receptor.

Animals↗
PubMed1992

Diabetic pregnancy: evidence of selection on the Rh blood group system.

The blood glucose levels of pregnant women with insulin-dependent diabetes mellitus and the blood glucose levels of newborns during the first few hours of life show an association with maternal Rh genotype. Distortions of joint maternal-fetal Rh phenotype distribution have also been observed. Because a cluster of genes involved in glycide metabolism is located on the short arm of chromosome 1, the present observations may reflect the action of these genes.

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

Functional modulation of the isolated glycoprotein Ib binding domain of von Willebrand factor expressed in Escherichia coli.

We have expressed in Escherichia coli the domain of von Willebrand factor (vWF) containing the binding site for platelet glycoprotein (GP) Ib and used it to study the regulation of vWF-platelet interaction. The recombinant fragment, comprising residues 445-733 of the mature vWF subunit and designated rvWF445-733, did not have the native conformation of the corresponding domain in the intact molecule because, in order to prevent formation of random aggregates, the seven cysteine residues in the sequence were reduced and alkylated. Unlike native vWF, rvWF445-733 bound to GP Ib in the absence of any modulator, suggesting that the lack of disulfide bonds and/or carbohydrate side chains within this domain may expose platelet interaction sites. In the presence of two modulators, the glycopeptide ristocetin and the snake protein botrocetin, rvWF445-733 inhibited native vWF binding to GP Ib as well as platelet aggregation mediated by vWF, suggesting that both the fragment and the native molecule interact with the same site on platelets. This conclusion was also supported by the observation that the recombinant fragment competed with the binding to platelets of an anti-GP Ib monoclonal antibody known to inhibit vWF binding. Botrocetin formed a complex with rvWF445-733, but the affinity of this interaction was approximately 25-fold lower than with native vWF. However, the complexes of botrocetin with either rvWF445-733 or multimeric native vWF bound to GP Ib with similar dissociation constant. Therefore, conformational attributes of vWF regulate its affinity for botrocetin, but once the complex is formed, interaction with GP Ib is independent of native vWF conformation. These findings provide insights into the regulation of vWF-platelet interaction.

Binding Sites↗
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

Intrauterine growth: association with acid phosphatase genetic polymorphism.

Acid phosphatase (ACP1) is an enzyme found in the cytoplasm of many tissues and probably functions as a flavin mononucleotide-phosphatase. Therefore the highest concentration of flavin-mononucleotide cofactors is expected in ACP1 phenotypes with the lowest enzymatic activity (A and BA) and the lowest concentration of these cofactors is expected in phenotypes with the highest activity (CB and C). Accordingly, metabolic activities related to flavoenzymes should attain maximal levels in A and BA phenotypes and minimal levels in CB and C phenotypes. In the present study we have analyzed possible effects of ACP1 genetic variability on intrauterine growth in a sample of 609 newborns collected from three consecutive series in Rome. An association between ACP1 and birth weight is observed. The association is present only among male infants. ACP1 phenotypes with low enzymatic activity (A and BA) show a clear tendency to higher rates of intrauterine growth. A linear negative correlation is also observed between enzymatic activity and quartile class. The relation is significant only in male infants. The data suggest that in fetuses with low ACP1 activity, metabolic activity may be regulated at a level allowing a full response to specific genetic stimuli maximizing fetal growth.

Acid Phosphatase↗
PubMed1990

[Heterozygote beta-thalassemia and neoplastic pathology].

To evaluate the possible correlation between heterozygote beta thalassemia (BTE) and neoplastic disease, a 5-year personal experience of clinically followed patients at Comacchio Hospital Internal Medicine and Surgery divisions is presented. The hemoglobin A2 was assayed in all patients whose medial corpuscular volume was lower than 80 fl. 589 consecutive neoplastic patients were evaluated; of these 73 were BTE. In the BTE patients the prevalence of neoplastic disease was 12.39% higher than in healthy people (8.8%, chi 2 = 8.79 and p = 0.03). In thalassaemic carriers the titres of medial annual incidence to 10,000 for neoplastic diseases were proved to be ever higher (46.08 versus 31.49/10,000). The incidence of gastric cancer was found to be greater in BTE than in non-trait carrier population (13 in 63 patients, with a 20.63% prevalence, chi 2 = 9.52 and p = 0.02). A higher prevalence of thalassaemic carriers was observed among subjects with cancer in different organs: larynx, oesophagus, gallbladder and bile ducts, pancreas, breast and kidney, but these differences were not statistically significant. As for various sites of cancer: lung, liver, uterus and ovary, bladder, prostate, skin, lymphomas, leukaemias and gammopathies, no difference in BTE prevalence was found. We conclude that a greater predisposition to neoplastic disease can be present in BTE than in healthy population.

Age Factors↗
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↗