title: Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways.
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.
authors.affiliation: Centre for Human Metabonomics, School for Physical and Chemical Sciences, North-West University, Potchefstroom 2520, South Africa. Etresia.VanDyk@nwu.ac.za
authors.forename: E
authors.initials: E
authors.lastname: van Dyk
authors.forename: A
authors.initials: A
authors.lastname: Steenkamp
authors.forename: G
authors.initials: G
authors.lastname: Koekemoer
authors.forename: P J
authors.initials: PJ
authors.lastname: Pretorius
mesh_terms: D002460:Cell Line; D020552:Comet Assay; D004260:DNA Repair; D006537:Heptanoates / Q000378:metabolism*; D006801:Humans; D006861:Hydrogen Peroxide / Q000633:toxicity; D010667:Phenylpyruvic Acids / Q000378:metabolism*; D020176:Tyrosinemias / Q000235:genetics* / Q000378:metabolism*
chemical_list: D006537:Heptanoates; D010667:Phenylpyruvic Acids; C010590:4-hydroxyphenylpyruvic acid; C020804:succinylacetone; D006861:Hydrogen Peroxide