GABA Measurement in a Neonatal Fragile X Syndrome Mouse Model Using ¹H-Magnetic Resonance Spectroscopy and Mass Spectrometry.

ABSTRACT: Fragile X syndrome (FXS) is the leading monogenetic cause of autism spectrum disorder and inherited cause of intellectual disability that affects approximately one in 7,000 males and one in 11,000 females. In FXS, the Fmr1 gene is silenced and prevents the expression of the fragile X mental retardation protein (FMRP) that directly targets mRNA transcripts of multiple GABA_A subunits. Therefore, FMRP loss adversely impacts the neuronal firing of the GABAergic system which creates an imbalance in the excitatory/inhibitory ratio within the brain. Current FXS treatment strategies focus on curing symptoms, such as anxiety or decreased social function. While treating symptoms can be helpful, incorporating non-invasive imaging to evaluate how treatments change the brain's biology

SUBMITTER: Reyes ST 

PROVIDER: S-EPMC7775297 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature