[Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?].
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.
Bergeron
Anne
A
Laboratoire de génétique cellulaire et développementale, Département de médecine, pavillon Marchand, Faculté de Médecine, Université Laval, Sainte-Foy, Québec, G1K 7P4 Canada.
Jorquera
Rossana
R
Tanguay
Robert M
RM
D000090:Acetoacetates / Q000378:metabolism* / Q000494:pharmacology; D002118:Calcium / Q000493:pharmacokinetics; D004721:Endoplasmic Reticulum / Q000473:pathology*; D006706:Homeostasis; D006801:Humans; D006867:Hydrolases / Q000494:pharmacology; D020176:Tyrosinemias / Q000503:physiopathology*
D000090:Acetoacetates; C105171:fumarylacetoacetate; D006867:Hydrolases; C020156:fumarylacetoacetase; D002118:Calcium