Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways

Autor: Piet J. Pretorius, Gerhard Koekemoer, E. van Dyk, A. Steenkamp
Rok vydání: 2010
Předmět:
Zdroj: Biochemical and Biophysical Research Communications. 401:32-36
ISSN: 0006-291X
Popis: 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.
Databáze: OpenAIRE