Centre for Human Metabonomics, School for Physical and Chemical Sciences, North-West University, Potchefstroom 2520, South Africa.
Biochem Biophys Res Commun. 2010 Oct 8;401(1):32-6. doi: 10.1016/j.bbrc.2010.09.002. Epub 2010 Sep 7.
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.
遗传性酪氨酸血症 1 型是一种常染色体隐性代谢紊乱疾病，由缺陷的延胡索酰乙酰乙酸水解酶引起，导致琥珀酰丙酮和对羟苯丙酮酸等代谢物积累。我们使用改良彗星试验来确定这些代谢物对碱基切除修复和核苷酸切除修复途径的影响。结果表明，代谢物对修复机制的影响不同，因为代谢物对 BER 的损伤作用大于对 NER 的损伤作用。
