During the Summer of 2018 cureCADASIL was able to support CADASIL research at UCLA. The sponsored summer fellowship was to understand the dysregulation of NOTCH signaling in CADASIL through immunohistological characterization of brain vasculature from CADASIL subjects and controls. Given the diversity in CADASIL-causing NOTCH3 mutations, our approach was to use a diverse cohort of NOTCH3 mutations to address the hypothesis that CADASIL is a disease caused by loss of function in NOTCH signaling. Utilizing a combination of markers for distinct vascular cell types, classical and novel NOTCH3 signaling targets we characterized the cellular consequences of CADASIL causing NOTCH3 mutations on brain vasculature. This fellowship aided to further advance our understanding of the consequences of NOTCH3 dysregulation in brain vasculature of CADASIL patients and provide preliminary data to support a grant submission to continue this work.
Photos courtesy of the The Arispe Laboratory, Department of Molecular, Cell, and Developmental Biology, UCLA