Proteomics and metabolomics approaches towards a functional insight onto autism spectrum disorders: Phenotype stratification and biomarker discovery

Maria Vittoria Ristori, Stefano Levi Mortera, Valeria Marzano, Silvia Guerrera, Pamela Vernocchi, Gianluca Ianiro, Simone Gardini, Giuliano Torre, Giovanni Valeri, Stefano Vicari, Antonio Gasbarrini, Lorenza Putignani

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD.
Lingua originaleEnglish
pagine (da-a)1-33
Numero di pagine33
RivistaInternational Journal of Molecular Sciences
Volume21
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • Autism Spectrum Disorder
  • Autism spectrum disorders (ASDs)
  • Biomarkers
  • Clinical decision support systems (CDSSs)
  • Disease biomarkers
  • Humans
  • Interactomics
  • Metabolome
  • Metabolomics
  • Phenotype
  • Precision Medicine
  • Proteome
  • Proteomics

Fingerprint

Entra nei temi di ricerca di 'Proteomics and metabolomics approaches towards a functional insight onto autism spectrum disorders: Phenotype stratification and biomarker discovery'. Insieme formano una fingerprint unica.

Cita questo