Research: “Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding”

Fragile X syndrome is a genetic syndrome caused by expanded codon repeat sequences within the FMR1 gene on the X chromosome. The syndrome is associated with neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Previous studies indicate that in the presence of FMR1 premutations, there are decreased zinc (Zn) levels in the brain. A deficit of Zn has been linked predisposing young carriers to increased risk of ASD, ADHD, and other psychopathologies. This study by researchers at UC Davis hypothesized that FMR1 premutation affects Zn homeostasis, bioenergetics, and protein expression of Shank3. To test this hypothesis, researchers used a cross-fostering experiment with mice and a complementary evaluation of Zn and Zn-associated outcomes via breast milk from twenty-five control and five premutation nursing mothers. Results emphasized that FMRP protein expression—and not FMR1 mRNA levels—correlate positively with neurodevelopmental disorders like ASD, ADHD and other psychopathologies. Future studies will be necessary to estimate the correct of Zn needed to avoid the associated risks of the offspring of premutatation mothers.