Information de reference pour ce titreAccession Number: | 00007461-200565030-00007.
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Author: | CHRISTIANSEN, L. 1 2; BRONS-POULSEN, J. 1 3; HORDER, M. 1; BROCK, A. 4; PETERSEN, N. E. 1 5
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Institution: | (1)Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Odense, Denmark (2)Epidemiology, Institute of Public Health, University of Southern Denmark, Odense, Denmark (3)DakoCytomation Norden A/S, Glostrup, Denmark (4)Department of Clinical Biochemistry, Viborg Hospital, Viborg, Denmark (5)Department of Clinical Biochemistry, Svendborg Hospital, Svendborg, Denmark
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Title: | Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.[Article]
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Source: | Scandinavian Journal of Clinical & Laboratory Investigation. 65(3):227-235, April 2005.
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Abstract: | The functional consequence of six uroporphyrinogen decarboxylase (UROD) gene mutations found in Danish patients with familial porphyria cutanea tarda was investigated. Wild-type UROD and the 6 mutants (3 missense, 1 nonsense and 2 frameshift mutants) were cloned and expressed using the prokaryotic gGEX-6P system, in which the protein is produced in fusion with glutathione S-transferase (GST). Enzymatic activity of the purified recombinant mutant fusion proteins ranged from undetectable to less than 12% of the recombinant wild-type protein. Mutant proteins cleaved from the GST part did not retain any catalytic activity. These observations can be ascribed to the structure/function relationships of the enzyme, and the fact that the enzyme is a dimer in its active form. Although the clinical manifestation of familial porphyria cutanea tarda is complex, the findings support the notion that different mutations may affect individuals differently.
(C) 2005 Medisinsk Fysiologisk Forening Forlag Foundation, Norway
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Author Keywords: | Mutations; porphyria cutanea tarda; residual activity; uroporphyrinogen decarboxylase.
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Language: | English.
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Document Type: | ORIGINAL ARTICLE.
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Journal Subset: | Clinical Medicine.
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ISSN: | 0036-5513
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NLM Journal Code: | ucp, 0404375
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