Consequences of a deficit of the tyrosine catabolism pathway: Hereditary tyrosinemia type 1

被引：7
|
作者：
Bergeron, A [1 ]
Jorquera, R [1 ]
Tanguay, RM [1 ]
机构：
[1] Univ Laval, Fac Med, Dept Med, Lab Genet Cellulaire & Dev, St Foy, PQ G1K 7P4, Canada
来源：
M S-MEDECINE SCIENCES | 2003年 / 19卷 / 10期
关键词：
D O I：
10.1051/medsci/20031910976
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
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+ homeostosis, may induce endoplasmic reticulum stress.
引用
收藏
页码：976 / 980
页数：5
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