Nieto-Estevez et al., 2024

2024 - 25/01/2024 BioRxiv

Dual effects of ARX poly-alanine mutations in human cortical and interneuron development

Vanesa Nieto-EstevezParul VarmaSara MirsadeghiJimena CaballeroSergio Gamero-AlamedaAli HosseiniSonal GoswamiMarc J. SilvosaDrew M. ThodesonZane R. LybrandMichele GiuglianoChristopher NavaraJenny Hsieh

Abstract:

Mutations in ARX, an X-linked gene, are implicated in a wide spectrum of neurological disorders including patients who have intellectual disability and epilepsy. Mouse models have shown that Arx is critical for cortical development and interneuron migration, however they do not recapitulate the full phenotype observed in patients. Moreover, the epilepsy in many patients with poly-alanine tract expansion (PAE) mutations in ARX show pharmacoresistance, emphasizing the need to develop new treatments. Here, we used human neural organoid models to study the consequences of PAE mutations, one of the most prevalent mutations in ARX. We found that PAE mutations result in an early increase in radial glia cells and intermediate progenitor cells, and premature differentiation leading to a loss of cortical neurons at later timepoints. Moreover, ARX expression is upregulated in CO derived from patient at 30 DIV which alters the expression of CDKN1C, SFRP1, DLK1 and FABP7, among others. We also found a cell autonomously enhanced interneuron migration, which can be rescued by CXCR4 inhibition. Furthermore, ARXPAE assembloids had hyper-activity and synchrony evident from the early stages. These data provide novel insights to the pathogenesis of these and likely related human neurological disorders and identifies a critical window for therapeutic interventions.

 

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