Giant Leap Forward in Understanding Autism
Published: 2023-02-16
Author: University of Montreal | Contact: umontreal.ca/en/
Peer-Reviewed Publication: Yes | DOI: https://www.pnas.org/doi/10.1073/pnas.2208963120
Additional References: Autism Information Publications
Synopsis: In Fragile X syndrome (FXS), the most common cause of autism, sensory signals from the outside world integrate differently, causing them to be underrepresented by cortical pyramidal neurons in the brain. Previous work has suggested that FXS and autism spectrum disorders are characterized by a hyperexcitable cortex, which is considered to be the main contributor to the hypersensitivity to sensory stimuli observed in autistic individuals. The finding opens the door to new strategies to support those with FXS and possibly other autism spectrum disorders to correctly perceive sensory signals from the outside world at the level of pyramidal neurons in the cortex.
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Definition
Fragile X Messenger Ribonucleoprotein 1 (FMR1) – Fragile X Messenger Ribonucleoprotein (FMRP)
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson’s disease, developmental delays, and other cognitive [...]