Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD
Abstract Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and repetitive or restricted behaviors. ASD subjects exhibit complex genetic and clinical heterogeneity, thus hindering the discovery of pathophysiologic...
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| Format: | Article |
| Language: | English |
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BMC
2020-05-01
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| Series: | Molecular Autism |
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| Online Access: | http://link.springer.com/article/10.1186/s13229-020-00339-0 |
| _version_ | 1818142980681236480 |
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| author | Lorenza Culotta Peter Penzes |
| author_facet | Lorenza Culotta Peter Penzes |
| author_sort | Lorenza Culotta |
| collection | DOAJ |
| description | Abstract Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and repetitive or restricted behaviors. ASD subjects exhibit complex genetic and clinical heterogeneity, thus hindering the discovery of pathophysiological mechanisms. Considering that several ASD-risk genes encode proteins involved in the regulation of synaptic plasticity, neuronal excitability, and neuronal connectivity, one hypothesis that has emerged is that ASD arises from a disruption of the neuronal network activity due to perturbation of the synaptic excitation and inhibition (E/I) balance. The development of induced pluripotent stem cell (iPSC) technology and recent advances in neuronal differentiation techniques provide a unique opportunity to model complex neuronal connectivity and to test the E/I hypothesis of ASD in human-based models. Here, we aim to review the latest advances in studying the different cellular and molecular mechanisms contributing to E/I balance using iPSC-based in vitro models of ASD. |
| first_indexed | 2024-12-11T11:24:24Z |
| format | Article |
| id | doaj.art-8154f32704c54720a01f2a56fd3a0727 |
| institution | Directory Open Access Journal |
| issn | 2040-2392 |
| language | English |
| last_indexed | 2024-12-11T11:24:24Z |
| publishDate | 2020-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Autism |
| spelling | doaj.art-8154f32704c54720a01f2a56fd3a07272022-12-22T01:09:03ZengBMCMolecular Autism2040-23922020-05-0111111110.1186/s13229-020-00339-0Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASDLorenza Culotta0Peter Penzes1Department of Physiology, Northwestern University Feinberg School of MedicineDepartment of Physiology, Northwestern University Feinberg School of MedicineAbstract Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and repetitive or restricted behaviors. ASD subjects exhibit complex genetic and clinical heterogeneity, thus hindering the discovery of pathophysiological mechanisms. Considering that several ASD-risk genes encode proteins involved in the regulation of synaptic plasticity, neuronal excitability, and neuronal connectivity, one hypothesis that has emerged is that ASD arises from a disruption of the neuronal network activity due to perturbation of the synaptic excitation and inhibition (E/I) balance. The development of induced pluripotent stem cell (iPSC) technology and recent advances in neuronal differentiation techniques provide a unique opportunity to model complex neuronal connectivity and to test the E/I hypothesis of ASD in human-based models. Here, we aim to review the latest advances in studying the different cellular and molecular mechanisms contributing to E/I balance using iPSC-based in vitro models of ASD.http://link.springer.com/article/10.1186/s13229-020-00339-0Autism spectrum disorderInduced pluripotent stem cellExcitation/inhibition balance |
| spellingShingle | Lorenza Culotta Peter Penzes Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD Molecular Autism Autism spectrum disorder Induced pluripotent stem cell Excitation/inhibition balance |
| title | Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD |
| title_full | Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD |
| title_fullStr | Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD |
| title_full_unstemmed | Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD |
| title_short | Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD |
| title_sort | exploring the mechanisms underlying excitation inhibition imbalance in human ipsc derived models of asd |
| topic | Autism spectrum disorder Induced pluripotent stem cell Excitation/inhibition balance |
| url | http://link.springer.com/article/10.1186/s13229-020-00339-0 |
| work_keys_str_mv | AT lorenzaculotta exploringthemechanismsunderlyingexcitationinhibitionimbalanceinhumanipscderivedmodelsofasd AT peterpenzes exploringthemechanismsunderlyingexcitationinhibitionimbalanceinhumanipscderivedmodelsofasd |