Genetic and other influences on red-cell flavin enzymes, pyridoxine phosphate oxidase and glutathione reductase in families with beta-thalassaemia
| Autor: | C. Vullo, G. Salsini, G. M. Perry, C. Studds, Janet E. Clements, B. B. Anderson, R. Fashola |
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| Rok vydání: | 1989 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Heterozygote Erythrocytes Glutathione reductase Flavin mononucleotide Flavin group Biology chemistry.chemical_compound hemic and lymphatic diseases medicine Humans heterocyclic compounds chemistry.chemical_classification Flavin adenine dinucleotide Oxidase test Oxidoreductases Acting on CH-NH Group Donors Red Cell Hematology General Medicine Middle Aged medicine.disease Pyridoxaminephosphate Oxidase Kinetics Hemoglobinopathy Enzyme Glutathione Reductase chemistry Biochemistry Flavin-Adenine Dinucleotide Thalassemia NADP |
| Zdroj: | European journal of haematology. 42(4) |
| ISSN: | 0902-4441 |
| Popis: | In 18 beta-thalassaemia families from the Ferrara area the incidence of an inherited low flavin mononucleotide (FMN)-dependent pyridoxine phosphate (PNP) oxidase activity, a sensitive indicator of red-cell FMN deficiency, is higher in related members in these families than in the unrelated spouses and controls subjects without family history of thalassaemia. This suggests slower red-cell riboflavin metabolism in thalassaemia families, which may have resulted from selection in combination with thalassaemia by malaria. However, there was a markedly higher incidence of red-cell flavin adenine dinucleotide (FAD) deficiency in thalassaemia heterozygotes than in their normal relatives. This was indicated by higher stimulation of FAD-dependent glutathione reductase (GR) activity by FAD and lower GR activity per red cell, and suggests a marked additive effect by thalassaemia on the red cell FAD deficiency that results from the inherited slow riboflavin metabolism. There is evidence that diversion of FAD to other FAD-dependent enzymes might be an important factor. |
| Databáze: | OpenAIRE |
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