title: The oxidative molecular regulation mechanism of NOX in children with phenylketonuria.
abstract: Phenylketonuria (PKU) is the most frequent inherited disorder of amino acid metabolism. In our previous work, we investigated the role of NADPH oxidase (NOX) in a Pahenu2-BTBR PKU mouse model, and an in vitro cell culture model of PKU. In the current study, we evaluated various oxidative stress parameters, namely total antioxidant capacity (T-AOC), glutathione (GSH) and maleic dialdehyde (MDA) in the plasma of 40 PKU children, for further investigating the oxidative molecular regulation mechanism of NOX in PKU. It was observed that T-AOC and GSH markedly decreased in PKU as compared with the control group (P<0.01), and seemed to correlate negatively with Phe level. However, there was no statistical difference in MDA level among the three groups. And 8-isoprostane in the blood samples of PKU2 groups was slightly higher than control group (P<0.05). Additionally, mRNA levels of subunits of NOX included p47(phox) and p67(phox) significantly increased in PKU group (P<0.01). These results reflected that NOX is the important source of reactive oxygen species and is involved in the oxidative molecular regulation mechanism in PKU, which shows a new perspective toward understanding the biological underpinnings of PKU.
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.
authors.forename: Ying-Zhong
authors.initials: YZ
authors.lastname: He
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China. Electronic address: gu_xuefan@163.com.
authors.forename: Xue-Fan
authors.initials: XF
authors.lastname: Gu
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Lu
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Liang
mesh_terms: D000447:Aldehydes / Q000378:metabolism; D000704:Analysis of Variance; D017209:Apoptosis; D002648:Child; D002675:Child, Preschool; D015237:Dinoprost / Q000031:analogs & derivatives / Q000097:blood; D005260:Female; D005434:Flow Cytometry; D005978:Glutathione / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007963:Leukocytes, Mononuclear / Q000378:metabolism*; D008297:Male; D019255:NADPH Oxidases / Q000097:blood* / Q000235:genetics; D010661:Phenylketonurias / Q000097:blood* / Q000473:pathology*; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D000447:Aldehydes; D012333:RNA, Messenger; C015977:malealdehyde; C075750:8-epi-prostaglandin F2alpha; D015237:Dinoprost; D019255:NADPH Oxidases; D005978:Glutathione
keywords: Children; NOX; Oxidative stress; Phenylketonuria (PKU); Superoxide