Using an Isogenic Human Pluripotent Stem Cell Model for Better Understanding Neurodevelopmental Defects in Fragile X Syndrome

FMR1 has a dynamic trinucleotide CGG repeat element in the promotor region, and when the CGG repeat expands to a repeat length above 200 during maternal transmission, FMR1 becomes methylated and its gene and protein expressions are silenced. Deficiency of the FMR1 protein product FMRP causes fragile X syndrome (FXS), the most commonly inherited form of intellectual disability and autism spectrum disorder. FXS is associated with a wide spectrum of comorbidities, including seizures, sensory hypersensitivity, hyperactivity, impulsivity, anxiety, and impaired learning (1).
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Early Career Investigator Commentary Source Type: research