Presence of activator proteins for the enzymatic degradation of glucosylceramide in several human tissues.

Glucosylceramidase (EC 3.2.1.45) protein activators, similar to the 'placental factor' previously identified by us in human placenta, have also been found in human liver, normal and Gaucher fibroblasts and Gaucher spleen. They stimulate enzymatic hydrolysis of the natural substrate, glucosylceramide, but not that of the artificial substrate, 4-MU-beta-D-glucopyranoside. They are present in the tissues over the minimum amount necessary for full activation of the enzyme and must be eliminated from crude enzyme preparations in order to observer their effect on glucosylceramidase activity. The factors are not tissue-specific in that the factors from any one of the sources can activate glucosylceramidase from either placenta or liver. The presence of taurocholate or phosphatidylserine in the assay is essential for the factor efficiency. A normal level of the activator proteins was found in fibroblasts from subjects affected with Gaucher disease type I, type II and type III.

Polymorphism of galactose-1-phosphate uridyltransferase in the Albanian and Croatian settlements of Molise (Italy).

Four Albanian and three Croatian communities settled in Molise (Italy) have been investigated for galactose-1-phosphate uridyltransferase (GALT) polymorphism. To obtain a detailed identification of each phenotype, electrophoresis and quantitative enzymatic analysis were performed on all samples. In addition to this isoelectric focusing was utilized to confirm and the D and LA variants. The gene frequencies of the different GALT alleles turned out to be: N = 0.912 (Albanians) and N = 0.868 (Croatians); G = 0.004 (Albanians); D = 0.051 (Albanians) and D = 0.081 (Croatians); LA = 0.033 (Albanians) and LA = 0.051 (Croatians). Both variants show frequencies similar to that observed in other Caucasoid populations.

Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

In the course of a population study in Italy, blood samples collected from 802 unrelated newborns and both their parents (when possible) have been examined for galactose-1-phosphate uridyltransferase (GALT) polymorphism. Electrophoresis and quantitative assay of GALT activity were not always sufficient for an accurate identification of the different GALT genotypes; segregation analysis provided better criteria for classification. A parent-child correlation coefficient for GALT activity equal to 0.107-0.155 was found when only the transmission of the normal allele was concerned, but the correlation rose to 0.618-0.682 when the Duarte and Los Angeles alleles were segregating. This confirmed the existence of a low (Duarte) and high (Los Angeles) activity variant. The overall validity of our genotype classification is supported by the good agreement between observed and expected mating types and segregations. The following gene frequencies were found for the different alleles: N = 0.9192, G = 0.0036, D = 0.0372 and LA = 0.0400.