STEADY-STATE LEVELS OF UROPORPHYRINOGEN DECARBOXYLASE MESSENGER-RNA IN LYMPHOBLASTOID CELL-LINES FROM PATIENTS WITH FAMILIAL PORPHYRIA CUTANEA-TARDA AND THEIR RELATIVES

  • 1 June 1988
    • journal article
    • research article
    • Vol. 42  (6) , 847-853
Abstract
Familial porphyria cutanea tarda (PCT) results from a generalized deficiency of uroporphyrinogen decarboxylase (URO-D) activity. The molecular defect responsible for this disorder has not been characterized. To determine whether decreased levels of URO-D mRNA are responsible for subnormal URO-D activity, steady-state levels of URO-D mRNA in lymphoblastoid cells were determined. Northern blots were hybridized with a URO-D cDNA probe and quantified by densitometry. No difference in the levels of URO-D mRNA was detected between affected individuals and their normal relatives. Thus, the deficiency of URO-D activity in two familial PCT pedigrees characterized here does not arise from a deficiency of URO-D mRNA.