Metabolomics of autism spectrum disorders: early insights regarding mammalian-microbial cometabolites.
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders consisting of delayed or impaired language development and difficulties in social interactions. The very high degree of phenotypic heterogeneity in ASD originates from the interaction between environmental risk factors and susceptible genetic loci, leading to epigenetic DNA methylation. Advances in system biology are becoming strategic for implementing knowledge on the ASD aetiology and for the early diagnosis of the disease after birth.



We overhauled the value of either targeted or untargeted metabolomics studies in autism for identifying the most relevant metabolic pathways and key metabolites implicated in the disease, with special emphasis to mammalian-microbial metabolites. The most discriminant metabolites in ASD belong to amino acid metabolism, antioxidant status, nicotinic acid metabolism, and mitochondrial metabolism. Expert commentary: Most published studies point out the role of metabolites derived from the gut microbiota: they can modulate the behavioral phenotype of the autistic children, greatly influencing host metabolic pathways and the immune system, shaping the individual susceptibility to the disease. Pitfalls and caveats in metabolomics results across studies have been additionally recognized and discussed leading to the conclusion that metabolomics studies in ASD are far to be definitive and univocal.
a Laboratory Medicine Service, IRCCS AOU San Martino-IST , University-Hospital , Genoa , Italy.
Michele
M
Mussap
b Department of Surgical Sciences, Neonatal Intensive Care Unit, Neonatal Pathology and Neonatal Section , University of Cagliari , Cagliari , Italy.
Antonio
A
Noto
b Department of Surgical Sciences, Neonatal Intensive Care Unit, Neonatal Pathology and Neonatal Section , University of Cagliari , Cagliari , Italy.|c Department of Public Health Clinical and Molecular Medicine , University of Cagliari , Cagliari , Italy.
Vassilios
V
Fanos
D000596:Amino Acids / Q000378:metabolism; D000975:Antioxidants / Q000378:metabolism; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000378:metabolism*; D015415:Biomarkers; D002648:Child; D004777:Environment; D000069196:Gastrointestinal Microbiome; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D053858:Metabolic Networks and Pathways; D055442:Metabolome; D055432:Metabolomics / Q000379:methods; D008928:Mitochondria / Q000378:metabolism; D055495:Neurogenesis; D009525:Niacin / Q000378:metabolism; D010641:Phenotype; D057285:Precision Medicine; D015995:Prevalence; D012307:Risk Factors
D000596:Amino Acids; D000975:Antioxidants; D015415:Biomarkers; D009525:Niacin
Autism spectrum disorders; children; gut microbiote; laboratory medicine; metabolites; metabolomics; network mapping; precision medicine; system biology