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

December 2022 in “ Journal of neurodevelopmental disorders ”

Isha Jalnapurkar, Jean A. Frazier, Mark B. Roth, David M. Cochran, Ann Foley, Taylor Merk, Lauren Venuti, Lucienne Ronco, Shane Raines, Diego Cadavid

hair follicle sampling FMRP FMR1 mRNA fragile X syndrome biomarkers

TLDR Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.

This pilot study assessed the feasibility of using hair follicle sampling to measure FMRP and FMR1 mRNA in children with and without fragile X syndrome (FXS). Involving 15 participants (10 with FXS, 5 healthy), aged 3-22 years, the study found that hair follicle sampling is a feasible and repeatable method for collecting these biomarkers, comparable to blood and buccal swabs. FMRP and FMR1 mRNA levels were significantly higher in healthy participants, with the lowest levels in FXS boys. The study supports the potential use of hair follicle sampling in future clinical trials for FXS.

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