Project description:Using DNA microarray as a global approach to understanding the molecular basis of autism, we examined gene expression profiling in peripheral blood from 21 young adults with autism spectrum disorder (ASD) and healthy mothers having children with ASD, between whom there was no blood relationship. Several genes which were significantly changed in the ASD group comparing with their age- and gender-matched healthy subjects were mainly involved in cell morphology, cellular assembly and organization, and nerve system development and function. In addition, mothers having children with ASD possessed a unique gene expression signature shown as significant alterations of protein synthesis despite of their nonautistic diagnostic status. Moreover, an ASD-associated gene expression signature was commonly observed in both individuals with ASD and healthy mothers having children with ASD. Total RNA was prepared from venous blood which was taken from each subject. Gene expression profiling of venous blood from subjects with ASD (21), the healthy women who had children with ASD (21) and their age- and gender-matched healthy subjects (42) were obtained using a whole human genome oligonucleotide microarray (Agilent 44K Human whole genome array G4112F, GPL6480) to measure gene expression in these samples according to the manufacture’s protocol. The one GSM sample of microarray analysis was made by individual subject. Differentially expressed genes were determined across all rationed expression values for age- and gender-matched pairs (ASD vs. control, asdMO vs. ctrlMO) using Genespling analysis.
Project description:Analysis of gene expression in inflamed gastrointestinal tissue and blood from GI-symptomatic children with ASD compared to non-inflamed tissue and blood from typically developing GI-syptomatic children. The hypothesis being tested was that peripheral blood would yield a surrogate biomarker for GI inflammation in children with ASD.
Project description:Autism spectrum disorder (ASD) diagnosis is increasing, with 1/88 children believed to be affected by the disorder, with a most recent survey suggesting numbers as high as 1/50. Treatment and understanding of ASD causes is a pressing health concern. ASD protein biomarkers may provide clues about ASD cause. Protein biomarkers for ASDs could be used for ASD diagnosis, subtyping, treatment monitoring and identifying therapeutic targets. Here we analyzed the sera from 7 children with ASD and 7 matched controls using Tricine gel electrophoresis (Tricine-PAGE) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Overall, we found increased levels of apolipoproteins (Apos) ApoA1 and ApoA4, involved in cholesterol metabolism and of serum paraoxanase/arylesterase 1 (PON1), involved in preventing oxidative damage, in the sera of children with ASD, compared with their matched controls. All three proteins are predicted to interact with each other and are parts of High Density Lipoproteins (HDLs). Further studies are needed to validate these findings in larger subject numbers.
Project description:Autism spectrum disorder (ASD) is a complex set of neurodevelopmental diseases. However, the etiology and pathogenesis of ASD is largely unknown. An integrated proteomics and metabolomics approach was performed on urine sampled from diagnosed ASD children and typical children. All urine protein samples (n= 160) were subjected to data-independent acquisition proteomic analysis and 60 urine samples underwent liquid chromatography-mass spectrometry based on metabolomic analysis. So, this study presents an overview of the molecular mechanism of ASD and offers some potential targets for further early screening.
Project description:The incidence rate of autism spectrum disorder (ASD) is increasing year by year. Apart from some knowledge of the clinical manifestations of ASD, there has been no significant progress in the study of its pathogenesis and biomarkers. To find biomarkers for early clinical diagnosis, we analyzed the expression profiles of circRNAs in peripheral blood of ASD children. After preliminary screening, among the 160985 circRNA sequences obtained, 461 differentially expressed circRNAs were identified, including 270 up-regulated ones and 146 down-regulated ones. The expression difference of 2 randomly selected circRNAs was verified by qPCR. Gene ontology (GO) and Kyoto Encyclopedia of genes and genomes (KEGG) pathway databases were used for enrichment analysis of biological functions. Dysregulated circRNAs were found abundant in biological functions related to synaptic structure, morphological development, and nervous system development. Pathway analysis suggested that extracellular matrix (ECM) receptor interaction, which is associated with synaptic plasticity and behavior, might be related to ASD. Our circRNA-microRNA interaction analysis showed that most circRNAs had multiple microRNAs binding sites, including miR-146, which might contribute to neuroinflammation of ASD. Our results show that some circRNAs are differently expressed in children with ASD and may take a part in the disease process. The differentially expressed circRNAs in peripheral blood have the potential to serve as biomarkers for early clinical screening of ASD.
Project description:We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in children with ID/DD, ASD and MCA and their unaffected parents
Project description:Using DNA microarray as a global approach to understanding the molecular basis of autism, we examined gene expression profiling in peripheral blood from 21 young adults with autism spectrum disorder (ASD) and healthy mothers having children with ASD, between whom there was no blood relationship. Several genes which were significantly changed in the ASD group comparing with their age- and gender-matched healthy subjects were mainly involved in cell morphology, cellular assembly and organization, and nerve system development and function. In addition, mothers having children with ASD possessed a unique gene expression signature shown as significant alterations of protein synthesis despite of their nonautistic diagnostic status. Moreover, an ASD-associated gene expression signature was commonly observed in both individuals with ASD and healthy mothers having children with ASD.
Project description:Gene expression in blood of children with autism spectrum disorder (ASD) was studied. Transcriptional profiles were compared with age and gender matched, typically developing children from the general population (GP) or IQ matched children with mental retardation or developmental delay (MR/DD). Keywords: autism analysis
2008-06-26 | GSE6575 | GEO
Project description:Gut microbiota of ASD children