The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome

    December 2021 in “ Research Square (Research Square) ”
    Isha Jalnapurkar, Jean A. Frazier, Mark B. Roth, David M. Cochran, Ann Foley, Taylor Merk, Lauren Venuti, Lucienne Ronco, Shane Raines, Diego Cadavid
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    TLDR Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
    The study assessed the feasibility of using hair follicle sampling to measure FMR1 mRNA and FMRP levels in children with Fragile X Syndrome (FXS) and typically developing children. Involving 15 participants (10 with FXS and 5 typically developing), the study found that FMRP and FMR1 mRNA levels were significantly higher in healthy participants compared to those with FXS. The results showed that hair follicle sampling, whether done at home or in an office, is a feasible and repeatable method for measuring these biomarkers in longitudinal studies.
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