Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview
The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2022.1107881/full |
| _version_ | 1797937297947099136 |
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| author | Angela Maria Giada Giovenale Angela Maria Giada Giovenale Giorgia Ruotolo Giorgia Ruotolo Amata Amy Soriano Elisa Maria Turco Giovannina Rotundo Alessia Casamassa Angela D’Anzi Angelo Luigi Vescovi Angelo Luigi Vescovi Jessica Rosati |
| author_facet | Angela Maria Giada Giovenale Angela Maria Giada Giovenale Giorgia Ruotolo Giorgia Ruotolo Amata Amy Soriano Elisa Maria Turco Giovannina Rotundo Alessia Casamassa Angela D’Anzi Angelo Luigi Vescovi Angelo Luigi Vescovi Jessica Rosati |
| author_sort | Angela Maria Giada Giovenale |
| collection | DOAJ |
| description | The human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (CNVs) of CHRNA7 gene have been identified in humans and are genetically linked to cognitive impairments associated with multiple disorders, including schizophrenia, bipolar disorder, epilepsy, Alzheimer’s disease, and others. Currently, α7 receptor analysis has been commonly performed in animal models due to the impossibility of direct investigation of the living human brain. But the use of model systems has shown that there are very large differences between humans and mice when researchers must study the CNVs and, in particular, the CNV of chromosome 15q13.3 where the CHRNA7 gene is present. In fact, human beings present genomic alterations as well as the presence of genes of recent origin that are not present in other model systems as well as they show a very heterogeneous symptomatology that is associated with both their genetic background and the environment where they live. To date, the induced pluripotent stem cells, obtained from patients carrying CNV in CHRNA7 gene, are a good in vitro model for studying the association of the α7 receptor to human diseases. In this review, we will outline the current state of hiPSCs technology applications in neurological diseases caused by CNVs in CHRNA7 gene. Furthermore, we will discuss some weaknesses that emerge from the overall analysis of the published articles. |
| first_indexed | 2024-04-10T18:42:26Z |
| format | Article |
| id | doaj.art-0756ee34813845648a6921b443b3cafa |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-04-10T18:42:26Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-0756ee34813845648a6921b443b3cafa2023-02-01T11:46:58ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2023-01-011010.3389/fcell.2022.11078811107881Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overviewAngela Maria Giada Giovenale0Angela Maria Giada Giovenale1Giorgia Ruotolo2Giorgia Ruotolo3Amata Amy Soriano4Elisa Maria Turco5Giovannina Rotundo6Alessia Casamassa7Angela D’Anzi8Angelo Luigi Vescovi9Angelo Luigi Vescovi10Jessica Rosati11Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyDepartment of Biotechnology and Biosciences, University of Milano-Bicocca, Milan, ItalyCellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, ItalyThe human α7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) is widely expressed in the central and peripheral nervous systems. This receptor is implicated in both brain development and adult neurogenesis thanks to its ability to mediate acetylcholine stimulus (Ach). Copy number variations (CNVs) of CHRNA7 gene have been identified in humans and are genetically linked to cognitive impairments associated with multiple disorders, including schizophrenia, bipolar disorder, epilepsy, Alzheimer’s disease, and others. Currently, α7 receptor analysis has been commonly performed in animal models due to the impossibility of direct investigation of the living human brain. But the use of model systems has shown that there are very large differences between humans and mice when researchers must study the CNVs and, in particular, the CNV of chromosome 15q13.3 where the CHRNA7 gene is present. In fact, human beings present genomic alterations as well as the presence of genes of recent origin that are not present in other model systems as well as they show a very heterogeneous symptomatology that is associated with both their genetic background and the environment where they live. To date, the induced pluripotent stem cells, obtained from patients carrying CNV in CHRNA7 gene, are a good in vitro model for studying the association of the α7 receptor to human diseases. In this review, we will outline the current state of hiPSCs technology applications in neurological diseases caused by CNVs in CHRNA7 gene. Furthermore, we will discuss some weaknesses that emerge from the overall analysis of the published articles.https://www.frontiersin.org/articles/10.3389/fcell.2022.1107881/fullneurodevelopmental disordersneuropsychiatric disorders15q11-13CHRNA7nicotinic acetylcholine receptorcopy number variation |
| spellingShingle | Angela Maria Giada Giovenale Angela Maria Giada Giovenale Giorgia Ruotolo Giorgia Ruotolo Amata Amy Soriano Elisa Maria Turco Giovannina Rotundo Alessia Casamassa Angela D’Anzi Angelo Luigi Vescovi Angelo Luigi Vescovi Jessica Rosati Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview Frontiers in Cell and Developmental Biology neurodevelopmental disorders neuropsychiatric disorders 15q11-13 CHRNA7 nicotinic acetylcholine receptor copy number variation |
| title | Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview |
| title_full | Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview |
| title_fullStr | Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview |
| title_full_unstemmed | Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview |
| title_short | Deepening the understanding of CNVs on chromosome 15q11–13 by using hiPSCs: An overview |
| title_sort | deepening the understanding of cnvs on chromosome 15q11 13 by using hipscs an overview |
| topic | neurodevelopmental disorders neuropsychiatric disorders 15q11-13 CHRNA7 nicotinic acetylcholine receptor copy number variation |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2022.1107881/full |
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