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Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions. | LitMetric

AI Article Synopsis

  • - Fragile X syndrome, the most common inherited intellectual disability, is caused by excessive CGG repeat expansions in the FMR1 gene, leading to the silencing of this gene and a lack of production of the important FMRP protein, which affects brain function.
  • - A study used an advanced FRET assay to measure FMRP levels in skin cells of 184 individuals with varying CGG repeat lengths and examined the connection between these FMRP levels and IQ scores.
  • - The findings reveal that, for those with normal CGG repeats, IQ remains stable above an FMRP threshold of about 70%, while below this threshold, IQ significantly declines; also, individuals in the study had a mean IQ of

Article Abstract

Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. As a consequence of FMR1 gene silencing, there is little or no production of FMR1 protein (FMRP), an important element in normal synaptic function. Although the absence of FMRP has long been known to be responsible for the cognitive impairment in fragile X syndrome, the relationship between FMRP level and cognitive ability (IQ) is only imprecisely understood. To address this issue, a high-throughput, fluorescence resonance energy transfer (FRET) assay has been used to quantify FMRP levels in dermal fibroblasts, and the relationship between FMRP and IQ measures was assessed by statistical analysis in a cohort of 184 individuals with CGG-repeat lengths spanning normal (< 45 CGGs) to full mutation (> 200 CGGs) repeat ranges in fibroblasts. The principal findings of the current study are twofold: i) For those with normal CGG repeats, IQ is no longer sensitive to further increases in FMRP above an FMRP threshold of ~70% of the mean FMRP level; below this threshold, IQ decreases steeply with further decreases in FMRP; and ii) For the current cohort, a mean IQ of 85 (lower bound for the normal IQ range) is attained for FMRP levels that are only ~35% of the mean FMRP level among normal CGG-repeat controls. The current results should help guide expectations for efforts to induce FMR1 gene activity and for the levels of cognitive function expected for a given range of FMRP levels.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938341PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0226811PLOS

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