Modelando anomalías craneofaciales en pez cebra

GABRIELA COUX

VIRTUAL

Congreso; AACYTAL 2021; 2021

AACYTAL

Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 80% of the cases are due to mutations in the TCOF1 gene. We developed a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1+/- mouse model, TCS-like zebrafish displayed reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region. Also, an increase of ROS along with the overexpression of redox-responsive genes was detected. Modeling TCS in zebrafish allowed us to further deepen the molecular pathophysiology of the condition and to test possible therapeutics to ameliorate cranial skeleton malformations. Our work is an example of how zebrafish is a convenient animal model with an impressive toolbox to study craniofacial disease.Keywords: Treacher Collins Syndrome, neurocristopathy, proteasome inhibitors