Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria

The Journal of Clinical Investigation
H de VerneuilY Nordmann

Abstract

In order to determine the molecular basis of uroporphyrinogen (URO) decarboxylase deficiency responsible for hepatoerythropoietic porphyria (HEP) and familial porphyria cutanea tarda, we used a human URO decarboxylase cDNA to analyze the organization and expression of the URO decarboxylase gene in lymphoblastoid cells from normal individuals and from two patients with HEP. We could detect neither deletions nor rearrangements in the URO decarboxylase gene. Synthesis, processing, and cell-free translation of the specific transcripts appeared to be normal. The half-life of the abnormal protein was 12 times shorter than that of the normal enzyme. The results indicate that the enzyme defect is due to a rapid degradation of the protein in vivo. This study is the first to provide information regarding the molecular mechanism responsible for the URO decarboxylase deficiency in HEP.

References

Aug 10, 1978·The New England Journal of Medicine·G H ElderJ A Tovey
Oct 31, 1978·Human Genetics·H de VerneuilY Nordmann
Aug 1, 1976·European Journal of Biochemistry·H R Pelham, R J Jackson
Apr 1, 1969·The British Journal of Dermatology·J P AguadéJ Rodés
May 1, 1984·Analytical Biochemistry·J Meinkoth, G Wahl
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·P H RomeoM Goossens

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Citations

Jan 1, 1990·International Journal of Cell Cloning·S Sassa
Oct 1, 1993·The International Journal of Biochemistry·M R Moore
Oct 6, 2000·Clinical & Experimental Ophthalmology·P VenkateshH K Tewari
Jan 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·Y NakahashiS Sassa
Mar 7, 1997·Biochemical Pharmacology·M NagaiS Sassa
Jun 15, 2011·The British Journal of Dermatology·J To-FiguerasC Herrero
Jul 2, 2015·Current Protocols in Human Genetics·Vaithamanithi-Mudumbai Sadagopa Ramanujam, Karl Elmo Anderson
Jul 31, 2002·Photodermatology, Photoimmunology & Photomedicine·Shigeru Sassa
Jan 1, 1989·Disease-a-month : DM·J R Bloomer, H L Bonkovsky
May 1, 1994·The Journal of Investigative Dermatology·K MeguroL C Harber

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