Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.
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.
Hansen
J L
JL
Division of Hematology/Oncology, University of Utah Medical Center, Salt Lake City 84132.
Pryor
M A
MA
Kennedy
J B
JB
Kushner
J P
JP
D002262:Carboxy-Lyases / Q000172:deficiency*; D002460:Cell Line; D004247:DNA / Q000235:genetics; D006801:Humans; D008214:Lymphocytes / Q000032:analysis / Q000201:enzymology; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics*; D012871:Skin Diseases / Q000201:enzymology / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency* / Q000235:genetics
D012333:RNA, Messenger; D004247:DNA; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase