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Behavioral Characterization of an Angelman Syndrome Mouse Model
Published on: October 20, 2023
Mouse models of Apert syndrome
1Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, 1428 Madison Avenue, New York, NY 10029, USA. gregory.holmes@mssm.edu
Summary
Apert syndrome, a craniosynostosis, stems from FGFR2 mutations. Mouse models reveal disease mechanisms and demonstrate potential therapeutic strategies for this genetic disorder.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- Apert syndrome is a distinct craniosynostosis characterized by premature fusion of skull bones.
- It arises from specific gain-of-function mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene.
- The S252W and P253R mutations account for over 98% of Apert syndrome cases, impacting multiple developing tissues, notably the calvarium and brain.
Purpose of the Study:
- To investigate the molecular and cellular underpinnings of Apert syndrome phenotypes.
- To establish and utilize mouse models for studying Apert syndrome.
- To explore potential therapeutic interventions for Apert syndrome.
Main Methods:
- Creation of mouse models mimicking key Apert syndrome-causing mutations (S252W, P253R, and a splice mutation).
- Phenotypic analysis of established mouse models to characterize Apert syndrome manifestations.
- Exploration of chemical inhibitors and gene-based therapies in preclinical models.
Main Results:
- Mouse models successfully recapitulated many hallmark phenotypes of Apert syndrome.
- Significant progress in elucidating the molecular and cellular mechanisms driving Apert syndrome.
- Demonstration of proof-of-principle for therapeutic interventions.
Conclusions:
- Mouse models are valuable tools for understanding Apert syndrome.
- The molecular basis of Apert syndrome phenotypes is increasingly understood.
- Chemical and gene-based therapies show promise for treating Apert syndrome.
