SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?
Abstract Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attempts to understand the mechanisms of disease and to develop new treatments. Induced...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-04-01
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| Series: | Molecular Autism |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13229-020-00330-9 |
| _version_ | 1818923912301379584 |
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| author | Karina A. Kruth Tierney M. Grisolano Christopher A. Ahern Aislinn J. Williams |
| author_facet | Karina A. Kruth Tierney M. Grisolano Christopher A. Ahern Aislinn J. Williams |
| author_sort | Karina A. Kruth |
| collection | DOAJ |
| description | Abstract Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel NaV1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism. |
| first_indexed | 2024-12-20T02:16:58Z |
| format | Article |
| id | doaj.art-16e7d985df8849498291ba22d57afbab |
| institution | Directory Open Access Journal |
| issn | 2040-2392 |
| language | English |
| last_indexed | 2024-12-20T02:16:58Z |
| publishDate | 2020-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Autism |
| spelling | doaj.art-16e7d985df8849498291ba22d57afbab2022-12-21T19:56:55ZengBMCMolecular Autism2040-23922020-04-0111111110.1186/s13229-020-00330-9SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?Karina A. Kruth0Tierney M. Grisolano1Christopher A. Ahern2Aislinn J. Williams3Department of Psychiatry, Iowa Neuroscience Institute, University of IowaDepartment of Molecular Physiology and Biophysics, Iowa Neuroscience Institute, University of IowaDepartment of Molecular Physiology and Biophysics, Iowa Neuroscience Institute, University of IowaDepartment of Psychiatry, Iowa Neuroscience Institute, University of IowaAbstract Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel NaV1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism.http://link.springer.com/article/10.1186/s13229-020-00330-9SCN2A syndromeAutism spectrum disorderInduced pluripotent stem cellSodium channelSCN2ANaV1.2 |
| spellingShingle | Karina A. Kruth Tierney M. Grisolano Christopher A. Ahern Aislinn J. Williams SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? Molecular Autism SCN2A syndrome Autism spectrum disorder Induced pluripotent stem cell Sodium channel SCN2A NaV1.2 |
| title | SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? |
| title_full | SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? |
| title_fullStr | SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? |
| title_full_unstemmed | SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? |
| title_short | SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? |
| title_sort | scn2a channelopathies in the autism spectrum of neuropsychiatric disorders a role for pluripotent stem cells |
| topic | SCN2A syndrome Autism spectrum disorder Induced pluripotent stem cell Sodium channel SCN2A NaV1.2 |
| url | http://link.springer.com/article/10.1186/s13229-020-00330-9 |
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