From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.
J Neurodev Disord
; 16(1): 30, 2024 Jun 13.
Article
in En
| MEDLINE
| ID: mdl-38872088
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Disease Models, Animal
/
Fragile X Syndrome
Limits:
Animals
/
Humans
Language:
En
Journal:
J Neurodev Disord
Year:
2024
Document type:
Article
Affiliation country:
United States
Country of publication:
United kingdom