Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some molecular features and clinical signs. For almost a...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Cell and Developmental Biology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2022.979512/full |
| _version_ | 1811204659225821184 |
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| author | Elisabetta Di Fede Paolo Grazioli Antonella Lettieri Chiara Parodi Silvia Castiglioni Esi Taci Elisa Adele Colombo Silvia Ancona Alberto Priori Alberto Priori Cristina Gervasini Cristina Gervasini Valentina Massa Valentina Massa |
| author_facet | Elisabetta Di Fede Paolo Grazioli Antonella Lettieri Chiara Parodi Silvia Castiglioni Esi Taci Elisa Adele Colombo Silvia Ancona Alberto Priori Alberto Priori Cristina Gervasini Cristina Gervasini Valentina Massa Valentina Massa |
| author_sort | Elisabetta Di Fede |
| collection | DOAJ |
| description | Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some molecular features and clinical signs. For almost all of these conditions, no specific treatment is available. For better understanding the molecular cascade caused by chromatin imbalance and for envisaging possible therapeutic strategies it is fundamental to combine clinical and basic research studies. To this end, animal modelling systems represent an invaluable tool to study chromatinopathies. In this review, we focused on available data in the literature of animal models mimicking the human genetic conditions. Importantly, affected organs and abnormalities are shared in the different animal models and most of these abnormalities are reported as clinical manifestation, underlying the parallelism between clinics and translational research. |
| first_indexed | 2024-04-12T03:17:15Z |
| format | Article |
| id | doaj.art-3af2ab1890a64ab4a7716bf6a4b9b466 |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-04-12T03:17:15Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-3af2ab1890a64ab4a7716bf6a4b9b4662022-12-22T03:50:02ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2022-09-011010.3389/fcell.2022.979512979512Epigenetic disorders: Lessons from the animals–animal models in chromatinopathiesElisabetta Di Fede0Paolo Grazioli1Antonella Lettieri2Chiara Parodi3Silvia Castiglioni4Esi Taci5Elisa Adele Colombo6Silvia Ancona7Alberto Priori8Alberto Priori9Cristina Gervasini10Cristina Gervasini11Valentina Massa12Valentina Massa13Department of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, Italy“Aldo Ravelli” Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, Italy“Aldo Ravelli” Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, ItalyDepartment of Health Sciences, Università Degli Studi di Milano, Milan, Italy“Aldo Ravelli” Center for Neurotechnology and Experimental Brain Therapeutics, Università Degli Studi di Milano, Milan, ItalyChromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some molecular features and clinical signs. For almost all of these conditions, no specific treatment is available. For better understanding the molecular cascade caused by chromatin imbalance and for envisaging possible therapeutic strategies it is fundamental to combine clinical and basic research studies. To this end, animal modelling systems represent an invaluable tool to study chromatinopathies. In this review, we focused on available data in the literature of animal models mimicking the human genetic conditions. Importantly, affected organs and abnormalities are shared in the different animal models and most of these abnormalities are reported as clinical manifestation, underlying the parallelism between clinics and translational research.https://www.frontiersin.org/articles/10.3389/fcell.2022.979512/fullchromatinopathiesanimal modelsrare diseasesmus musculusdrosophila melanogasterDanio rerio |
| spellingShingle | Elisabetta Di Fede Paolo Grazioli Antonella Lettieri Chiara Parodi Silvia Castiglioni Esi Taci Elisa Adele Colombo Silvia Ancona Alberto Priori Alberto Priori Cristina Gervasini Cristina Gervasini Valentina Massa Valentina Massa Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies Frontiers in Cell and Developmental Biology chromatinopathies animal models rare diseases mus musculus drosophila melanogaster Danio rerio |
| title | Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies |
| title_full | Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies |
| title_fullStr | Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies |
| title_full_unstemmed | Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies |
| title_short | Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies |
| title_sort | epigenetic disorders lessons from the animals animal models in chromatinopathies |
| topic | chromatinopathies animal models rare diseases mus musculus drosophila melanogaster Danio rerio |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2022.979512/full |
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