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Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics
Yu Ma1, Hao Zhou2, Chunpei Li1
1Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.
Insights
This study identified key urinary metabolic differences in children with autism spectrum disorder (ASD), revealing altered amino acid metabolism pathways that may contribute to ASD pathogenesis. These findings highlight potential biomarkers for early ASD diagnosis.
Area of Science:
- Metabolomics
- Neurodevelopmental Disorders
- Biomarker Discovery
Background:
- Autism spectrum disorder (ASD) is a neurodevelopmental disorder lacking reliable early diagnostic biomarkers.
- Metabolic variations in children with ASD require investigation to understand pathogenic mechanisms.
- A large-scale, multi-center study is needed to identify robust metabolic signatures.
Purpose of the Study:
- To identify distinct metabolic profiles in children diagnosed with ASD compared to healthy controls.
- To pinpoint specific differential metabolites and elucidate their roles in ASD pathogenesis.
- To explore the potential of identified metabolites as early diagnostic biomarkers for ASD.
Main Methods:
- Recruited 117 children with ASD and 119 healthy children across 7 cities.
- Utilized 1H-NMR metabolomics to analyze urine samples for metabolic variations.
- Employed multivariate (PCA, OPLS-DA) and univariate statistical analyses, alongside ROC curve and pathway analyses.
Main Results:
- ASD group exhibited significantly higher levels of glycine, guanidinoacetic acid, creatine, and formate, and lower levels of 3-aminoisobutanoic acid, alanine, taurine, and hypoxanthine compared to controls.
- Receiver Operating Characteristic (ROC) curve analysis indicated diagnostic potential for hypoxanthine, creatinine, creatine, N-methylnicotinamide, and guanidinoacetic acid.
- A combination of creatine, creatinine, and hypoxanthine achieved an Area Under the Curve (AUC) of 0.720, suggesting improved diagnostic accuracy.
Conclusions:
- Significant alterations in urinary amino acid metabolites are observed in children with ASD.
- Aberrations in amino acid metabolic pathways, including glycine, serine, threonine, arginine, proline, and taurine metabolism, are implicated in ASD pathogenesis.
- These findings underscore the potential of urinary metabolomics for early ASD detection and understanding disease mechanisms.
Abstract:
Background: Autism spectrum disorder (ASD) is a group of early-onset neurodevelopmental disorders. However, there is no valuable biomarker for the early diagnosis of ASD. Our large-scale and multi-center study aims to identify metabolic variations between ASD and healthy children and to investigate differential metabolites and associated pathogenic mechanisms. Methods: One hundred and seventeen autistic children and 119 healthy children were recruited from research centers of 7 cities. Urine samples were assayed by 1H-NMR metabolomics analysis to detect metabolic variations. Multivariate statistical analysis, including principal component analysis (PCA), and orthogonal projection to latent structure discriminant analysis (OPLS-DA), as well as univariate analysis were used to assess differential metabolites between the ASD and control groups. The differential metabolites were further analyzed by receiver operating characteristics (ROC) curve analysis and metabolic pathways analysis. Results: Compared with the control group, the ASD group showed higher levels of glycine, guanidinoacetic acid, creatine, hydroxyphenylacetylglycine, phenylacetylglycine, and formate and lower levels of 3-aminoisobutanoic acid, alanine, taurine, creatinine, hypoxanthine, and N-methylnicotinamide. ROC curve showed relatively significant diagnostic values for hypoxanthine [area under the curve (AUC) = 0.657, 95% CI 0.588 to 0.726], creatinine (AUC = 0.639, 95% CI 0.569 to 0.709), creatine (AUC = 0.623, 95% CI 0.552 to 0.694), N-methylnicotinamide (AUC = 0.595, 95% CI 0.523 to 0.668), and guanidinoacetic acid (AUC = 0.574, 95% CI 0.501 to 0.647) in the ASD group. Combining the metabolites creatine, creatinine and hypoxanthine, the AUC of the ROC curve reached 0.720 (95% CI 0.659 to 0.777). Significantly altered metabolite pathways associated with differential metabolites were glycine, serine and threonine metabolism, arginine and proline metabolism, and taurine and hypotaurine metabolism. Conclusions: Urinary amino acid metabolites were significantly altered in children with ASD. Amino acid metabolic pathways might play important roles in the pathogenic mechanisms of ASD.
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