Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.
Danio rerio
animal models
chromatinopathies
drosophila melanogaster
mus musculus
rare diseases
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2022
2022
Historique:
received:
27
06
2022
accepted:
05
09
2022
entrez:
13
10
2022
pubmed:
14
10
2022
medline:
14
10
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36225316
doi: 10.3389/fcell.2022.979512
pii: 979512
pmc: PMC9548571
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
979512Informations de copyright
Copyright © 2022 Di Fede, Grazioli, Lettieri, Parodi, Castiglioni, Taci, Colombo, Ancona, Priori, Gervasini and Massa.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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