Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study

• Published in: Brain sciences Vol. 12; no. 3; p. 314
• Main Authors: Brašić, James Robert, Goodman, Jack Alexander, Nandi, Ayon, Russell, David S., Jennings, Danna, Barret, Olivier, Martin, Samuel D., Slifer, Keith, Sedlak, Thomas, Mathur, Anil Kumar, Seibyl, John P., Berry-Kravis, Elizabeth M., Wong, Dean F., Budimirovic, Dejan B.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 26.02.2022; MDPI
• Subjects: Alzheimer's disease; Animal models; anterior cingulate cortex; Autism; Benzonitrile; Clinical trials; correlation coefficient; Cortex (cingulate); FMR1 protein; fragile X mental retardation 1 gene (FMR1); Fragile X syndrome; Genotype & phenotype; Glutamatergic transmission; Glutamic acid receptors (metabotropic); Intellectual disabilities; Kinases; Life Sciences; linear regression; Mosaicism; Neurodegenerative diseases; neurodevelopmental disorders; neuroimaging; Occipital lobe; Phenotypes; Positron emission tomography; Precision medicine; Protein synthesis; Proteins; Thalamus; Tomography; radiotracer; positron emission tomography (PET); linear regression; fragile X mental retardation 1 gene (FMR1); correlation coefficient; neurodevelopmental disorders; temporal cortex; anterior cingulate cortex; neuroimaging; thalamus

Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein (FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in the pathogenesis of fragile X syndrome (FXS), the most commonly known single-gene cause of inherited intellectual disa...