Association of the retinol to all-trans retinoic acid pathway with autism spectrum disorder
作者机构：Children Nutrition Research CenterChongqing Key Laboratory of Child Neurodevelopmental and Cognitive DisordersMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChildren’s Hospital of Chongqing Medical UniversityNo 1362nd Zhongshan RdYuzhong DistrictChongqingChina Department of PediatricsWomen and Children’Hospital of Chongqing Medical UniversityChongqing Health Center for Women and ChildrenChongqingChina
出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)
年 卷 期：2024年第20卷第10期
页 面：1043-1058页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：supported by the National Natural Science Foundation of China(No.81771223 to TYL,No.82372559 to JC and No.82304119 to TY) the Chief Medical Expert Studio of Chongqing[No.YWBF(2018)263 to TYL] the China Postdoctoral Science Foundation(No.2023M730448 to TY) the Chongqing Postdoctoral Science Foundation(No.CSTB2023NSCQ-BHX0155)
主 题：All-trans retinoic acid Autism spectrum disorder Retinoic acid signaling pathway Vitamin A Vitamin A metabolism
摘 要：Background Autism spectrum disorder(ASD)is a complex group of neurodevelopmental *** has highlighted a close association between the retinoic acid(RA)signaling pathway and *** study investigates alterations in the vitamin A(VA,retinol)to RA metabolic pathway in children with ASD and speculates on the underlying reasons for these *** propose a subtype characterized by downregulated RA signaling in ASD,laying the groundwork for precise diagnosis and treatment *** We included 489 children with ASD and 280 typically developing(TD)*** with ASD underwent evaluations of core symptoms and neuro-developmental levels,which were conducted by professional developmental behavior physicians using assessment *** VA and all-trans RA(atRA)levels were determined by high-performance liquid chromatography and ultra-high-performance liquid chromatography–tandem mass *** expression levels and concentrations of enzyme molecules such as retinol dehydrogenase 10 were assessed using quantitative polymerase chain reaction and enzyme-linked immunosorbent *** Children with ASD exhibited reduced serum atRA,accompanied by a downregulation of atRA synthesis *** reduction in serum atRA levels was linked not only to VA levels but also to the aberrant expression of metabolic enzymes responsible for ***,the serum atRA levels in children with ASD were more strongly correlated with core symptoms and neurodevelopmental levels than VA *** Children with ASD exhibited a dual regulation of reduced serum atRA levels,influenced by both VA levels and abnormal expression of atRA metabolic enzymes.
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