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.

Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies / E. Di Fede, P. Grazioli, A. Lettieri, C. Parodi, S. Castiglioni, E. Taci, E.A. Colombo, S. Ancona, A. Priori, C. Gervasini, V. Massa. - In: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. - ISSN 2296-634X. - 10:(2022), pp. 979512.1-979512.12. [10.3389/fcell.2022.979512]

Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies

E. Di Fede
Primo
;
P. Grazioli;E.A. Colombo;S. Ancona;A. Priori;C. Gervasini;V. Massa
Ultimo
2022

Abstract

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.
Danio rerio; animal models; chromatinopathies; drosophila melanogaster; mus musculus; rare diseases
Settore MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
Settore MED/26 - Neurologia
26-set-2022
Article (author)
File in questo prodotto:
File Dimensione Formato  
fcell-10-979512.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.43 MB
Formato Adobe PDF
1.43 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/949678
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 0
social impact