2 resultados para Porphyria cutanea tarda

em CentAUR: Central Archive University of Reading - UK


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This paper details the results of recent reanalysis of the animal remains from the 1960s excavations at Fishbourne Roman Palace, West Sussex. It argues that specimens originally identified as belonging to the great bustard are, in fact, misidentified remains of common crane. This discovery has important connotations. First, these findings need to be reported so that the avian archaeological record can be updated to avoid future syntheses of Romano-British faunal remains incorrectly including great bustard. Secondly, interpretations of the zooarchaeological remains at Fishbourne Palace will alter, due to the differing ecological histories of bustards and cranes.

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Acute intermittent porphyria is an inborn error of haem synthesis which is transmitted as a dominant character with variable phenotypic expression. The disorder is caused by a partial deficiency of porphobilinogen deaminase in all tissues so far studied. The nature of the enzymatic deficiency of porphobilinogen deaminase in haemolysates from patients with acute intermittent porphyria was examined by the use of monospecific antibody probes. In affected heterozygotes from three British pedigrees of diverse ancestry, the catalytic deficiency of porphobilinogen deaminase was accompanied by diminished enzyme protein, as determined by radial immunodiffusion. No evidence of functionally attenuated enzyme was demonstrable by kinetic studies. The molecular forms of the residual enzyme were investigated in red cell extracts and in lysed preparations of reticulocytes by a sensitive Western blotting procedure. This revealed the presence of reduced amounts of porphobilinogen deaminase polypeptide co-migrating with wild type enzyme (Mr approximately 40,000), and no evidence of variant forms in situ. The studies show that porphobilinogen deaminase deficiency in acute intermittent porphyria is commonly associated with a CRM-phenotype. The residual activity under these circumstances is thus related to expression of a single normal allele, since sensitive techniques detected neither aberrant nor degraded forms of the enzyme in erythroid tissues.