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Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase

15th National Research Competition in Life and Earth Sciences

Rare diseases

Senior Researcher : Óscar Millet Aguilar-Galindo

Research Centre or Institution : Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya.

Abstract

Porphyrias are a family of autosomal diseases caused by mutations in the different enzymes responsible for biosynthesis of haem. In particular, the loss of catalytic activity in uroporphyrinogen III synthase is ultimately responsible for congenital erythropoietic porphyria (CEP). Although it is very rare (there are less than a hundred cases described on the Iberian Peninsula), the symptoms experienced by patients are very pronounced. This research project aims to study, in vivo, the changes in stability of the enzyme in the wild and for the most common pathogenic mutants. In order to establish the basis for potential therapeutic treatments the effect of different organic molecules on the in vivo stability of mutant proteins will be studied.

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