acid-phosphatase and Favism

Acid phosphatases (APs) are a family of enzymes that are widespread in nature, and can be found in many animal and plant species. Mystery surrounds the precise functional role of these molecular facilitators, despite much research. Yet, paradoxically, human APs have had considerable impact as tools of clinical investigation and intervention. One particular example is tartrate resistant acid phosphatase, which is detected in the serum in raised amounts accompanying pathological bone resorption. This article seeks to explore the identity and diversity of APs, and to demonstrate the relation between APs, human disease, and clinical diagnosis.

Topics: Acid Phosphatase; alpha-Macroglobulins; Biomarkers; Bone Resorption; Favism; Gaucher Disease; Humans; Intracellular Fluid; Isoenzymes; Leukemia, Hairy Cell; Male; Osteoclasts; Osteoporosis; Prostate; Prostatic Neoplasms; Protein Binding; Reactive Oxygen Species; Tartrate-Resistant Acid Phosphatase

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.

Topics: Abortion, Habitual; Acid Phosphatase; Adult; Amino Acid Sequence; Case-Control Studies; Conserved Sequence; Erythrocytes; Favism; Female; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Genetic Variation; Genotype; Humans; Infant, Newborn; Isoenzymes; Italy; Male; Odds Ratio; Polymorphism, Genetic; Pregnancy; Reference Values

Anthropological studies were done on 1276 Libyans from the Mediterranean cities of Tripoli and Benghazi, and from Sabha southward in The Sahara. The incidences of hemoglobin (Hb)-S and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were low in the coastal areas and significantly high in Sabha. Hb-C occurred sporadically in Tripoli and Sabha, and was absent from Benghazi in the east. One case of Hb-J Benghazi was noted. There were no sigificant differences in the ABO blood group and Rh0 (D) type distributions in the three localities. G-6-PD gene GdAfrequency was significantly high in Sabha. The lowest value of 6-phosphogluconate dehydrogenase (6-PGD) gene PGDA frequency and highest value of the gene PGDC were in Sabha. Adenylate kinase (AK) gene AK2 was only detectable in Tripoli. Acid phosphatase (AP) gene Pa frequency in Sabha was more than twice that in Tripoli and Benghazi, while pc was distinctly lower in Sabha than in the northern cities. Haptoglobin gene Hp1 frequency was almost identical in all areas. Anthropometric measurements revealed overall homogeneity of the three samples, closer similarity in the coastal region to adjacent North African populations, and Negroid influence in the Sahara Libyans. Anthropometry substantiated findings from blood markers.

Topics: ABO Blood-Group System; Acid Phosphatase; Adenylate Kinase; Anthropometry; Black People; Body Height; Body Weight; Child; Egypt; Favism; Female; Gene Frequency; Genetics, Population; Glucosephosphate Dehydrogenase Deficiency; Haptoglobins; Hemoglobin H; Hemoglobins; Humans; Libya; Male; Phenotype; Phosphogluconate Dehydrogenase; Racial Groups; Rh-Hr Blood-Group System; Thalassemia

The frequency of PC allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and GdMed prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying PA allele for acid phosphatase. The data suggest that the gradient for malaria morbidity directly or indirectly, through interactions with thalassemia and G6PD polymorphisms, mediated by the habit of eating Vecia faba, may have had a significant role in determining the heterogeneous distribution of acid phosphatase polymorphism in Sardinia. Besides malaria, other environmental factors related with altitude seem to have been very important in shaping the present pattern of distribution of both acid phosphatase and G6PD polymorphisms in Sardinia.

Topics: Acid Phosphatase; Alleles; Altitude; Animals; Erythrocytes; Favism; Female; Gene Frequency; Glucosephosphate Dehydrogenase Deficiency; Italy; Malaria; Male; Polymorphism, Genetic; Thalassemia

Topics: Acid Phosphatase; Adolescent; Age Factors; Anemia, Hemolytic; Child; Child, Preschool; Erythrocytes; Favism; Glucosephosphate Dehydrogenase Deficiency; Glutathione; Humans; Italy; Male; Plant Extracts; Thalassemia

Topics: Acid Phosphatase; Erythrocytes; Favism; Hemolysis; Humans; Infant, Newborn; Jaundice, Neonatal; Phenotype; Polymorphism, Genetic

The frequency of carriers of the P(a)and P(c) alleles of the gene for acid phosphatase in the erythrocyte is significantly higher in male subjects deficient in glucose-6-phosphate dehydrogenase and having hemolytic clinical favism than it is in the general population. This observation seems to indicate that alleles (P(a) and P(c)) of a gene polymorphic in all human populations affect the fitness of the involved phenotypes in special genotypic and nongenotypic conditions.

Topics: Acid Phosphatase; Alleles; Erythrocytes; Ethnicity; Favism; Female; Gene Frequency; Glucosephosphate Dehydrogenase Deficiency; Humans; Male; Mediterranean Islands; Molecular Biology; Phenotype; Polymorphism, Genetic; Rome