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Scand J Clin Lab Invest. 2005;65(3):227-35.

Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.

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1
Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Odense, Denmark. lchristiansen@health.sdu.dk

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.

PMID:
16095052
[Indexed for MEDLINE]
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