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Maturation, Barrier Function, Aging, and Breakdown of the Blood–Brain Barrier
Published in Shamim I. Ahmad, Aging: Exploring a Complex Phenomenon, 2017
Elizabeth de Lange, Ágnes Bajza, Péter Imre, Attila Csorba, László Dénes, Franciska Erdő
GPR124, a member of the G protein-coupled receptor family, known as tumor endothelial marker 5 (TEM5), has a pivotal role in the brain-specific angiogenesis (Anderson et al. 2011). The phenotype is characterized by impaired EC survival, growth, and migration, which result in an eligible vascular sprout to embryonic neuroectoderm. GPR124 seems to act independently from VEGF in vessel sprouting. Expression of VEGFr was unaffected in the absence of GPR124 (Cullen et al. 2011).
Deciphering the vascular labyrinth: role of microRNAs and candidate gene SNPs in brain AVM development – literature review
Published in Neurological Research, 2020
Ioan Alexandru Florian, Teodora Larisa Timiș, Gheorghe Ungureanu, Ioan Stefan Florian, Adrian Bălașa, Ioana Berindan-neagoe
GPR124 (probable G-protein coupled receptor 124) is an orphan G protein-coupled receptor that expressly facilitates physiological embryonic and tumor angiogenesis within the central nervous system [50,61]. It may also be tied to the formation of the blood-brain barrier. Apparently, GPR124 normally modulates signaling via the TGF-β pathway, while its deletion causes deficiencies in angiogenesis and endoglin upregulation. According to Weinsheimer et al., the SNP rs7015566, located in intron 1, is correlated with a decreased chance of harboring a sporadic brain AVM in Caucasian patients who harbor the minor allele A [61]. The SNP in question is situated in a well-conserved region and its function is uncertain. Therefore, there is a chance that this SNP as well is not underlying the disease, but actually behaves as a surrogate marker in linkage disequilibrium with functional polymorphisms found in other areas of the GPR124 gene. Nonetheless, their study was limited to self-reported Caucasians, so population stratification might have occurred. Furthermore, the researchers had a finite amount of tissue samples for patients homozygous of the rs7015566 major allele, and as such a relationship between the rs7015566 genotype and GPR124 protein expression could not be accurately assessed. In the future, studies with larger patient cohorts may be able to ascertain the functionality of this polymorphism.