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1. May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria. Comparison with the situation in Slavic population

Creator:
Hrdinka, M., Puy, H., and Martasek, P.
Type:
article, model:article, and TEXT
Subject:
Acute intermittent porphyria, Polymorphisms, Mutations, PBGD gene, and MIM 176000
Language:
English
Description:
Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various countries and ethnic groups. During the search for mutations identified among Slavic AIP patients we found 65 such mutations and concluded that there is not a distinct predominance of certain mutations in Slavs.
Rights:
http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public

2. Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model

Creator:
Abitbol, M., Puy, H., Sabaté, J.-M., Guénet, J.-L-, Deybach, J.-Ch., and Montagutelli, X.
Type:
article, model:article, and TEXT
Subject:
Erythropoietic protoporphyria, Ursodesoxycholate, Heme, and Mouse model
Language:
English
Description:
Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by partial ferrochelatase deficiency, resulting in protoporphyrin overproduction which is responsible for painful skin photosensitivity. Chronic liver disease is the most severe complication of EPP, requiring liver transplantation in some patients. Data from a mouse model suggest that cytotoxic bile formation with high concentrations of bile salts and protoporphyrin may cause biliary fibrosis by damaging bile duct epithelium. In humans, cholestasis is a result of intracellular and canalicular precipitation of protoporphyrin. To limit liver damage two strategies may be considered: the first is to reduce protoporphyrin production and the second is to enhance protoporphyrin excretion. Bile salts are known to increase protoporphyrin excretion via the bile, while heme arginate is used to decrease the production of porphyrins in acute attacks of hepatic porphyrias. The Griseofulvin-induced protoporphyria mouse model has been used to study several aspects of human protoporphyria including the effects of bile salts. However, the best EPP animal model is an ethylnitrosourea-induced point mutation with fully recessive transmission, named ferrochelatase deficiency (Fech m1Pas). Here we investigate the effect of early ursodesoxycholic acid (UDCA) administration and heme-arginate injections on the ferrochelatase deficient EPP mouse model. In this model UDCA administration and heme-arginate injections do not improve the protoporphyric condition of Fechm1Pas/Fechm1Pas mice.
Rights:
http://creativecommons.org/licenses/by-nc-sa/4.0/ and policy:public