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The Expression of Caspases is Enhanced in Peripheral Blood Mononuclear Cells of Autism Spectrum Disorder Patients

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Abstract

Autism and autism spectrum disorders (ASDs) are heterogeneous complex neuro-developmental disorders characterized by dysfunctions in social interaction and communication skills. Their pathogenesis has been linked to interactions between genes and environmental factors. Consistent with the evidence of certain similarities between immune cells and neurons, autistic children also show an altered immune response of peripheral blood mononuclear cells (PBMCs). In this study, we investigated the activation of caspases, cysteinyl aspartate-specific proteases involved in apoptosis and several other cell functions in PBMCs from 15 ASD children compared to age-matched normal healthy developing controls. The mRNA levels for caspase-1, -2, -4, -5 were significantly increased in ASD children as compared to healthy subjects. Protein levels of Caspase-3, -7, -12 were also increased in ASD patients. Our data are suggestive of a possible role of the capsase pathway in ASD clinical outcome and of the use of caspase as potential diagnostic and/or therapeutic tools in ASD management.

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Acknowledgments

First and foremost, we thank the many autism families who volunteered as participants in this research study. The authors gratefully thank Mr. Enzo Abate and no-profit organization “La Forza del Silenzio”- Italy for their useful assistance. We thank the Autism Research Institute, USA (ARI grant “Research that makes a difference” 2010) for financial support of this study.

Conflict of interest

Dr. Anna Sapone is scientific consultant of Schaer Italy Inc.

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Siniscalco, D., Sapone, A., Giordano, C. et al. The Expression of Caspases is Enhanced in Peripheral Blood Mononuclear Cells of Autism Spectrum Disorder Patients. J Autism Dev Disord 42, 1403–1410 (2012). https://doi.org/10.1007/s10803-011-1373-z

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