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Disease Modeling of CADASIL Using Human-Induced Pluripotent Stem Cell-Derived Mural Cells

AJAS · 2025

Sarah Park · Florida Academy of Sciences

Overview

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an extremely rare neurological small vessel disease, affecting about 2-5 people every 100,000 globally, defined by the NOTCH3 mutation (Khan, et al., 2020). The aim of this study was to establish a disease model for CADASIL using human induced pluripotent stem cells (hiPSC)-derived mural cells to represent the disease pathogenesis of CADASIL through validation of hiPSC-derived mural cells and functional analysis. Validation of hiPSC-derived mural cells were performed through qPCR and lmmunofluorescence. There was a significantly lower expression of PDGFRB and NG2 in CADASIL cell lines (p < 0.0001), suggesting dysregulation in mural cells function, compromised angiogenic potential, and impaired vascular development in CADASIL. To examine the calcium influx of CADASIL vs. Non-CADASIL cell lines, the brightness intensity was quantified, followed by the addition of ionomycin to accentuate the calcium signal. Furthermore, there was significantly higher calcium influx in CADASIL cell lines (p< 0.05), indicating elevated levels of Ca2+ due to the vasoconstriction. Cell migration rates of mural cells were compared using the Scratch assay. The Scratch assay demonstrated that PC from Non-CADASIL exhibited a faster proliferation rate compared to CADASIL (p < 0.05). Through the MTT Assay, the healthy control mural cells exhibited significantly higher absorbance compared to CADASIL mural cells (p < 0.001), indicating reduced proliferation rate in CADASIL-derived mural cells. As the hiPSC-derived MC provided an effective model for CADASIL, the research has implications for future drug development and improved diagnosis, allowing further investigation of CADASIL pathogenesis.

Competition history

  • AJAS 2025 Category not listed

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Source: AAAS Annual Meeting (Confex) / American Junior Academy of Science

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