Proteomic Investigations of Autism Spectrum Disorder: Past Findings, Current Challenges, and Future Prospects

  • Joseph Abraham
  • Nicholas Szoko
  • Marvin R. NatowiczEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1118)


Proteomics is a powerful tool to study biological systems and is potentially useful in identifying biomarkers for clinical screening and diagnosis, for monitoring treatment, and for exploring pathogenetic mechanisms in autism. Unlike numerous other experimental approaches employed in autism research, there have been few proteomic-based analyses. Herein, we discuss the findings of studies regarding autism that utilized a proteomic approach and review key considerations in sample acquisition, processing, and analysis. Most proteomic studies on autism used blood or other peripheral tissues. Few studies used brain tissue, the main site of biological difference between persons with autism and others. The findings have varied and are not yet replicated. Some showed abnormalities of synaptic proteins or proteins of mitochondrial bioenergetics. Various abnormalities of proteins relating to immune processes and lipid metabolism have also been noted. Whether any of the proteomic differences between autism and control cases are primary or secondary phenomena is currently unclear. Consequently, no definitive biomarkers for autism have been identified, and the pathophysiological insights provided by proteomic studies to date are uncertain in the absence of replication. Based on this body of work and the challenges in using proteomics to study autism, we suggest considerations for future study design. These include attention to subject and specimen inclusion/exclusion criteria, attention to the state of specimens prior to proteomic analysis, and use of a replicate set of specimens. We end by discussing especially promising applications of proteomics in the study of autism pathobiology.


Autism ASD Proteomic Proteomics Mass spectrometry Neuroproteomics 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Joseph Abraham
    • 1
  • Nicholas Szoko
    • 1
  • Marvin R. Natowicz
    • 1
    • 2
    Email author
  1. 1.Cleveland Clinic Lerner College of Medicine of Case Western Reserve UniversityClevelandUSA
  2. 2.Pathology & Laboratory Medicine, Genomic Medicine, Neurology and Pediatrics InstitutesCleveland ClinicClevelandUSA

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