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Hypermethylation of the enolase gene (ENO2) in autism
Wang, Yu1,2,3,4; Fang, Yudan1,3,4; Zhang, Fengling2; Xu, Miao1,3,4; Zhang, Jingzhi1,3,4; Yan, Jingbin1,3,4; Ju, Weina6; Brown, W. Ted6; Zhong, Nanbert1,2,3,4,5,6
关键词Autism Neurodevelopment Gene ENO2 Methylation Epigenetics
刊名EUROPEAN JOURNAL OF PEDIATRICS
2014-09-01
DOI10.1007/s00431-014-2311-9
173期:9页:1233-1244
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pediatrics
资助者National "973" program - Chinese Ministry of Science and Technology ; Shanghai Municipal Department of Science and Technology ; Shanghai Municipal Health Bureau ; New York State Office for People with Developmental Disabilities (OPWDD) ; National "973" program - Chinese Ministry of Science and Technology ; Shanghai Municipal Department of Science and Technology ; Shanghai Municipal Health Bureau ; New York State Office for People with Developmental Disabilities (OPWDD)
研究领域[WOS]Pediatrics
关键词[WOS]MECP2 PROMOTER METHYLATION ; REVEALS ; SCHIZOPHRENIA ; EXPRESSION ; BIOMARKERS ; CORTEX ; SERUM
英文摘要

It has been hypothesized that dysregulation of brain-expressed genes is the major predisposing underlying mechanism for autism. This dysregulation may be mediated by differential methylation of CpG sites within gene promoters, which could be candidate biomarkers and used for early clinical screening of autism. A total of 131 pairs of age- and sex-matched autistic and control subjects were recruited in this study. Peripheral blood cells were analyzed. The first five pairs were randomly applied to array-based genome-wide methylation studies. A neuron-specific gene, ENO2, was found to be hypermethylated in the autistic samples. This difference was validated by bisulfite sequencing PCR (BSP). The differential expression of ENO2 gene was further analyzed with RT-qPCR and ELISA. The hypermethylation of ENO2 within the promoter region was confirmed by BSP to be present in 14.5 % (19/131) of the total of the autistic samples. The mean ENO2 RNA level in these 19 autistic samples was reduced by about 70 % relative to that in controls. The average level of ENO2 protein expression in the 19 autistic samples (15.18 +/- 3.51 mu g/l) was about half of that in the controls (33.86 +/- 8.16 mu g/l). Conclusion: These findings suggest that reduced ENO2 expression may be a biomarker for a subset of autistic children.

语种英语
所属项目编号2012CB517905 ; 2009JC1412600 ; 2010Y151
资助者National "973" program - Chinese Ministry of Science and Technology ; Shanghai Municipal Department of Science and Technology ; Shanghai Municipal Health Bureau ; New York State Office for People with Developmental Disabilities (OPWDD) ; National "973" program - Chinese Ministry of Science and Technology ; Shanghai Municipal Department of Science and Technology ; Shanghai Municipal Health Bureau ; New York State Office for People with Developmental Disabilities (OPWDD)
WOS记录号WOS:000340673300014
引用统计
被引频次:9[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62294
专题基础医学院_北京大学医学遗传中心
作者单位1.Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Med Genet, Shanghai 200040, Peoples R China
2.Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Children Hlth Care, Shanghai 200040, Peoples R China
3.Minist Hlth, Key Lab Embryo Mol Biol, Shanghai, Peoples R China
4.Shanghai Lab Embryo & Reprod Engn, Shanghai, Peoples R China
5.Peking Univ, Ctr Med Genet, Beijing 100871, Peoples R China
6.New York State Inst Basic Res Dev Disabil, New York, NY USA
推荐引用方式
GB/T 7714
Wang, Yu,Fang, Yudan,Zhang, Fengling,et al. Hypermethylation of the enolase gene (ENO2) in autism[J]. EUROPEAN JOURNAL OF PEDIATRICS,2014,173(9):1233-1244.
APA Wang, Yu.,Fang, Yudan.,Zhang, Fengling.,Xu, Miao.,Zhang, Jingzhi.,...&Zhong, Nanbert.(2014).Hypermethylation of the enolase gene (ENO2) in autism.EUROPEAN JOURNAL OF PEDIATRICS,173(9),1233-1244.
MLA Wang, Yu,et al."Hypermethylation of the enolase gene (ENO2) in autism".EUROPEAN JOURNAL OF PEDIATRICS 173.9(2014):1233-1244.
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