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[Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?]
Anne Bergeron1, Rossana Jorquera, Robert M Tanguay
1Laboratoire de génétique cellulaire et développementale, Département de médecine, pavillon Marchand, Faculté de Médecine, Université Laval, Sainte-Foy, Québec, G1K 7P4 Canada.
Abstract:
Hereditary tyrosinemia type 1 (HT1) is the most severe metabolic disease associated with tyrosine catabolism. An accumulation of toxic metabolites seems responsible for the pathology of HT1. The metabolite fumarylacetoacetate, accumulating due to a deficiency in fumarylacetoacetate hydrolase, displays apoptogenic, mutagenic, aneugenic and mitogenic activities. These effects may underlie the tumorigenic phenomenon observed in HT1. Fumarylacetoacetate in addition to causing disturbances in Ca2+ homeostasis, may induce endoplasmic reticulum stress.