Fragile X syndrome discovery offers clue in autism

Green-colored newborn neurons with primary cilia in red / Image by Shree Panda of the Lee laboratory

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.

Read the full news release.

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