Autism spectrum disorders and disease modeling using stem cells

Brito, Anita; Russo, Fabiele Baldino; Muotri, Alysson Renato; Beltrão-Braga, Patricia Cristina Baleeiro

doi:10.1007/s00441-017-2685-x

Review
Published: 16 September 2017

Autism spectrum disorders and disease modeling using stem cells

Anita Brito^1,2,
Fabiele Baldino Russo^1,2,
Alysson Renato Muotri³ &
Patricia Cristina Baleeiro Beltrão-Braga^1,2,4

Cell and Tissue Research volume 371, pages 153–160 (2018)Cite this article

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Abstract

Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others. Considering the variability of the clinical symptoms, one autistic individual can be severely affected in communication while others can speak perfectly, sometimes having a vocabulary above average in early childhood. The same variability can be seen in other clinical symptoms, thus the “spectrum” can vary from severe to mild. Induced pluripotent stem cell technology has been used to model several neurological diseases, including syndromic and non-syndromic autism. We discuss how modeling the central nervous system cells in a dish may help to reach a better understanding of ASD pathology and variability, as well as personalize their treatment.

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Acknowledgements

We would like to thank the support of the agency FAPESP (2011/20683-0, 09/51180-03), the NGO “the tooth fairy project, Brazil”, the National Institutes of Health (R01MH108528, R01MH094753, R01MH109885, R01MH100175, R56MH109587, U19MH107367), the “Autour des Williams” Association, a NARSAD Independent Investigator Grant (to A.R.M.) and to the ASD and control individuals and their families for donation of their teeth to “the tooth fairy project”.

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Anita Brito and Fabiele Baldino Russo contributed equally to this work.

Affiliations

Department of Surgery, Stem Cell Laboratory, University of São Paulo, São Paulo, 05508-270, Brazil
Anita Brito, Fabiele Baldino Russo & Patricia Cristina Baleeiro Beltrão-Braga
Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Anita Brito, Fabiele Baldino Russo & Patricia Cristina Baleeiro Beltrão-Braga
School of Medicine, Department of Pediatrics/Rady Children’s Hospital San Diego, Department of Cellular & Molecular Medicine, Stem Cell Program, University of California San Diego, La Jolla, CA, 92037-0695, USA
Alysson Renato Muotri
Department of Obstetrics, School of Arts Sciences and Humanities, São Paulo, SP, 03828-000, Brazil
Patricia Cristina Baleeiro Beltrão-Braga

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Anita Brito
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Fabiele Baldino Russo
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Alysson Renato Muotri
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Patricia Cristina Baleeiro Beltrão-Braga
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Correspondence to Alysson Renato Muotri or Patricia Cristina Baleeiro Beltrão-Braga.

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Alysson Renato Muotri and Baleeiro Beltrão-Braga are last authors.

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Brito, A., Russo, F.B., Muotri, A.R. et al. Autism spectrum disorders and disease modeling using stem cells. Cell Tissue Res 371, 153–160 (2018). https://doi.org/10.1007/s00441-017-2685-x

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Received: 25 May 2017
Accepted: 19 August 2017
Published: 16 September 2017
Issue Date: January 2018
DOI: https://doi.org/10.1007/s00441-017-2685-x

Keywords

Autism spectrum disorders
ASD
iPSC
Stem cells
Disease modeling