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  • Title: Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.
    Author: Christiansen L, Brøns-Poulsen J, Hørder M, Brock A, Petersen NE.
    Journal: Scand J Clin Lab Invest; 2005; 65(3):227-35. PubMed ID: 16095052.
    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.
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