NRXN1α +/- is associated with increased excitability in ASD iPSC-derived neurons


Sahar Avazzadeh Leo R Quinlan Jamie Reilly Katya McDonagh Amirhossein Jalali Yanqin Wang Veronica McInerney Janusz Krawczyk Yicheng Ding Jacqueline Fitzgerald Matthew O’Sullivan Eva B Forman Sally A Lynch Sean Ennis Niamh Feerick Richard Reilly  Weidong Li Xu Shen Guangming YangYin Lu Hilde Peeters Peter Dockery Timothy O’Brien Sanbing Shen Louise Gallagher 

RXN1 deletions are identified as one of major rare risk factors for autism spectrum disorder (ASD) and other neurodevelopmental disorders. ASD has 30% co-morbidity with epilepsy, and the latter is associated with excessive neuronal firing. NRXN1 encodes hundreds of presynaptic neuro-adhesion proteins categorized as NRXN1α/β/γ. Previous studies on cultured cells show that the short NRXN1β primarily exerts excitation effect, whereas the long NRXN1α which is more commonly deleted in patients involves in both excitation and inhibition. However, patient-derived models are essential for understanding functional consequences of NRXN1α deletions in human neurons. We recently derived induced pluripotent stem cells (iPSCs) from five controls and three ASD patients carrying NRXN1α+/- and showed increased calcium transients in patient neurons. See full publication. 

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