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Tyrosine and its catabolites: from disease to cancer

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Tanguay R. M., Jorquera R., Poudrier J., St-Louis M.

Acta Biochimica Polonica

1996

tom 43

nr 1

Hereditary tyrosinemia type I (HT I, McKusick 276700) is a metabolic disease with a pattern of autosomal recessive inheritance. The disease is caused by a deficiency of the enzyme involved in the last step in the degradation of the amino acid tyrosine, fumarylacetoacetate hydrolase (FAH). The result of this block is the accumulation of catabolites some of which have been proposed to be highly toxic due to their alkylating potential. In humans, hereditary tyrosinemia is often associated with the development of hepatocellular carcinoma in young patients. The reasons for the high incidence of hepatocellular carcinoma are unknown but it has been suggested that it may be caused by accumulated metabolites such as fumarylacetoacetate (FAA) and maieylacetoacetate (MAA). The various mutational defects in the FAH gene are reviewed. The use of two mouse models of this disease to study the molecular basis of the pathologies associated with HT I are discussed. Finally, some preliminary data on the mutagenic potential of FAA and MAA in a gene reversal assay are presented.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Jorquera R.

1 Poudrier J.

1 St-Louis M.

1 Tanguay R. M.

1 1996

Wyniki wyszukiwania

Tyrosine and its catabolites: from disease to cancer