Biochemical and Biophysical Research Communications 2010-10-08

Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways.

E van Dyk, A Steenkamp, G Koekemoer, P J Pretorius

Index: Biochem. Biophys. Res. Commun. 401(1) , 32-6, (2010)

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Abstract

Hereditary tyrosinemia type 1 is an autosomal recessive metabolic disorder, which is caused by a defective fumarylacetoacetate hydrolase enzyme, and consequently metabolites such as succinylacetone and p-hydroxyphenylpyruvate accumulate. We used a modified comet assay to determine the effect of these metabolites on base- and nucleotide excision repair pathways. Our results indicate that the metabolites affected the repair mechanisms differently, since the metabolites had a bigger detrimental effect on BER than on NER.Copyright © 2010 Elsevier Inc. All rights reserved.