PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

T Barak, E Ristori, AG Ercan-Sencicek… - Nature medicine, 2021 - nature.com
T Barak, E Ristori, AG Ercan-Sencicek, DF Miyagishima, C Nelson-Williams, W Dong, SC Jin
Nature medicine, 2021nature.com
Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset
disease that often causes death or severe disability. Although genome-wide association
studies have identified common genetic variants that increase IA risk moderately, the
contribution of variants with large effect remains poorly defined. Using whole-exome
sequencing, we identified significant enrichment of rare, deleterious mutations in PPIL4,
encoding peptidyl-prolyl cis-trans isomerase-like 4, in both familial and index IA cases. Ppil4 …
Abstract
Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although genome-wide association studies have identified common genetic variants that increase IA risk moderately, the contribution of variants with large effect remains poorly defined. Using whole-exome sequencing, we identified significant enrichment of rare, deleterious mutations in PPIL4, encoding peptidyl-prolyl cis-trans isomerase-like 4, in both familial and index IA cases. Ppil4 depletion in vertebrate models causes intracerebral hemorrhage, defects in cerebrovascular morphology and impaired Wnt signaling. Wild-type, but not IA-mutant, PPIL4 potentiates Wnt signaling by binding JMJD6, a known angiogenesis regulator and Wnt activator. These findings identify a novel PPIL4-dependent Wnt signaling mechanism involved in brain-specific angiogenesis and maintenance of cerebrovascular integrity and implicate PPIL4 gene mutations in the pathogenesis of IA.
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