FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. As a consequence, little or no FMR1 protein (FMRP) is produced; absence of the protein, which normally is responsible for neuronal development and maintenance, causes the syndrome. Previous studies have demonstrated the causal relationship between FMRP levels and cognitive abilities in peripheral blood mononuclear cells (PBMCs) and dermal fibroblast cell lines of patients with FXS.

Source: Journal of Molecular Diagnostics - March 21, 2024 Category: Pathology Authors: Poonnada Jiraanont, Marwa Zafarullah, Noor Sulaiman, Glenda M. Espinal, Jamie L. Randol, Blythe Durbin-Johnson, Andrea Schneider, Randi J. Hagerman, Paul J. Hagerman, Flora Tassone Tags: Regular article Source Type: research