From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.
Soraya O SandovalNatasha M Méndez-AlbeloZhiyan XuXinyu ZhaoPublished in: Journal of neurodevelopmental disorders (2024)
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.
Keyphrases
- intellectual disability
- pluripotent stem cells
- copy number
- stem cells
- autism spectrum disorder
- genome wide
- clinical trial
- dna methylation
- endothelial cells
- case report
- small molecule
- high throughput
- current status
- randomized controlled trial
- induced pluripotent stem cells
- clinical practice
- protein protein
- cell therapy
- amino acid
- study protocol