Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

Article Abstract:

Familial porphyria cutanea tarda (f-PCT), which comes from half-normal activity of uroporphyrinogen decarboxylase (URO-D) and is autosomal dominant, is discussed with information on frequency of common hemochromatosis alleles and characterization of seven novel uroporphyrinogen decarboxylase mutations. No correlation between f-PCT disease severity and the URO-D and/or hemochromatosis genotypes is clearly established, and marked genetic heterogeneity underlies f-PCT.

Argentina, Statistical Data Included, Usage, Abnormalities, Physiological aspects, Hepatitis C, Liver, Enzymes, Skin, Chromosome mapping, Genetic disorders, Genetic counseling, Skin abnormalities

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ALAD porphyria is a conformational disease

Article Abstract:

ALAD porphyria is a rare porphyric disorder caused by a profound lack of porphobilinogen synthase (PBGS) activity. Study is conducted to demonstrate that each porphyria-associated mutation shifts the human PBGS morpheein equilibrium toward the hexamer which provides a new way to think about genetic alterations that compromise function but not at the enzyme active site.

Binding sites (Biochemistry), Active sites (Biochemistry)

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Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells

Article Abstract:

The feasibility of gene therapy in congenital erthropoietic porphyria (CEP) is tested using a murine model. It is demonstrated that transplantation of genetically modified hematpoietic stem cells at a moderate transproduction level supports the proof of concept of a gene therapy in CEP.

Genetically modified mice, Animal genetic engineering

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