Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?
Autism Spectrum Disorders (ASDs) is a multigenic and multifactorial neurodevelopmental group of disorders diagnosed in early childhood, leading to deficits in social interaction, verbal and non-verbal communication and characterized by restricted and repetitive behaviors and interests. To date, gene...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2019.00225/full |
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| author | Gilles Maussion Cecilia Rocha Geneviève Bernard Geneviève Bernard Geneviève Bernard Geneviève Bernard Lenore K. Beitel Thomas M. Durcan |
| author_facet | Gilles Maussion Cecilia Rocha Geneviève Bernard Geneviève Bernard Geneviève Bernard Geneviève Bernard Lenore K. Beitel Thomas M. Durcan |
| author_sort | Gilles Maussion |
| collection | DOAJ |
| description | Autism Spectrum Disorders (ASDs) is a multigenic and multifactorial neurodevelopmental group of disorders diagnosed in early childhood, leading to deficits in social interaction, verbal and non-verbal communication and characterized by restricted and repetitive behaviors and interests. To date, genetic, descriptive and mechanistic aspects of the ASDs have been investigated using mouse models and post-mortem brain tissue. More recently, the technology to generate stem cells from patients' samples has brought a new avenue for modeling ASD through 2D and 3D neuronal models that are derived from a patient's own cells, with the goal of building new therapeutic strategies for treating ASDs. This review analyses how studies performed on mouse models and human samples can complement each other, advancing our current knowledge into the pathophysiology of the ASDs. Regardless of the genetic and phenotypic heterogeneities of ASDs, convergent information regarding the molecular and cellular mechanisms involved in these disorders can be extracted from these models. Thus, considering the complexities of these disorders, patient-derived models have immense potential to elucidate molecular deregulations that contributed to the different autistic phenotypes. Through these direct investigations with the human in vitro models, they offer the potential for opening new therapeutic avenues that can be translated into the clinic. |
| first_indexed | 2024-12-12T14:29:03Z |
| format | Article |
| id | doaj.art-41bdae787a2840d79db99cbbaa92c526 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-12T14:29:03Z |
| publishDate | 2019-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-41bdae787a2840d79db99cbbaa92c5262022-12-22T00:21:35ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602019-06-01710.3389/fped.2019.00225445220Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?Gilles Maussion0Cecilia Rocha1Geneviève Bernard2Geneviève Bernard3Geneviève Bernard4Geneviève Bernard5Lenore K. Beitel6Thomas M. Durcan7Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, CanadaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, CanadaDepartments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC, CanadaDivision of Medical Genetics, Department of Internal Medicine, McGill University Health Center, Montreal, QC, CanadaChild Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, CanadaMyeliNeuroGene Laboratory, Research Institute of the McGill University Health Center, Montreal, QC, CanadaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, CanadaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, CanadaAutism Spectrum Disorders (ASDs) is a multigenic and multifactorial neurodevelopmental group of disorders diagnosed in early childhood, leading to deficits in social interaction, verbal and non-verbal communication and characterized by restricted and repetitive behaviors and interests. To date, genetic, descriptive and mechanistic aspects of the ASDs have been investigated using mouse models and post-mortem brain tissue. More recently, the technology to generate stem cells from patients' samples has brought a new avenue for modeling ASD through 2D and 3D neuronal models that are derived from a patient's own cells, with the goal of building new therapeutic strategies for treating ASDs. This review analyses how studies performed on mouse models and human samples can complement each other, advancing our current knowledge into the pathophysiology of the ASDs. Regardless of the genetic and phenotypic heterogeneities of ASDs, convergent information regarding the molecular and cellular mechanisms involved in these disorders can be extracted from these models. Thus, considering the complexities of these disorders, patient-derived models have immense potential to elucidate molecular deregulations that contributed to the different autistic phenotypes. Through these direct investigations with the human in vitro models, they offer the potential for opening new therapeutic avenues that can be translated into the clinic.https://www.frontiersin.org/article/10.3389/fped.2019.00225/fullautism spectrum disordergeneticspost-mortem brain studieshuman induced pluripotent stem cellstherapeutic strategy |
| spellingShingle | Gilles Maussion Cecilia Rocha Geneviève Bernard Geneviève Bernard Geneviève Bernard Geneviève Bernard Lenore K. Beitel Thomas M. Durcan Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? Frontiers in Pediatrics autism spectrum disorder genetics post-mortem brain studies human induced pluripotent stem cells therapeutic strategy |
| title | Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? |
| title_full | Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? |
| title_fullStr | Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? |
| title_full_unstemmed | Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? |
| title_short | Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? |
| title_sort | patient derived stem cells another in vitro model or the missing link toward novel therapies for autism spectrum disorders |
| topic | autism spectrum disorder genetics post-mortem brain studies human induced pluripotent stem cells therapeutic strategy |
| url | https://www.frontiersin.org/article/10.3389/fped.2019.00225/full |
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