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. Study results were published 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 the 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.
The research team focused on primary cilia located in a brain structure called the dentate gyrus. It is part of the hippocampus, a learning and memory command center. The reduction of primary cilia was specifically noted in the dentate gyrus, the authors found.
This cilia loss was observed postnatally mainly in newborn neurons generated from the DG, implicating that these primary ciliary deficits may possibly contribute to the pathophysiology of FXS.
The dentate gyrus is one of two brain structures that contain neuronal stem cells, the senior author said. The dentate gyrus serves as a nursery for newborn neurons, which depend on the primary cilia to enable their maturation.
Primary cilia have not previously been linked to Fragile X syndrome, the author said.
"If we get to know how the primary cilia work in the newborn neuron and how they contribute to Fragile X syndrome, the next step would be to promote them," the author said.
"There are drugs to do that, and they could be potential therapies for Fragile X syndrome and other neurodevelopmental disorders, because there are multiple studies showing that neurodevelopmental disorders and autism can be reversed in adults," the author said.
https://news.uthscsa.edu/cell-antennas-lacking-in-fragile-x-syndrome-study-finds/
https://www.cell.com/stem-cell-reports/fulltext/S2213-6711(20)30244-7
http://sciencemission.com/site/index.php?page=news&type=view&id=publications%2Fprimary-ciliary&filter=22
Fragile X syndrome neurons lack cilia!
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