Fragile X syndrome discovery offers clue in autism
Structures called primary cilia – which act like TV antennas for cells to detect signals – are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from UT Health San Antonio. Study results were published July 30 in the journal Stem Cell Reports.
Fragile X syndrome is a genetic disorder often accompanied by mild to severe intellectual disability. Autism spectrum disorders frequently occur in affected children.
Understanding the role of primary cilia deficits in Fragile X syndrome and autism and developing novel therapeutics to increase their numbers could lead to reversing these neurodevelopmental disorders, said study senior author Hye Young Lee, PhD.