The possible involvement of mutations in the VHL gene in aneurysm formation was supported by the fact that deregulations of various proteins and mediators occur in VHL disease that are involved in maintaining the structure of the arterial wall,18, 19, 20 including vascular endothelial growth factor (VEGF), matrix metalloproteinases (MMPs), collagen type III, fibronectin, elastase, laminin, alpha-1 antitrypsin, fibroblast growth factor, transforming growth factor (TGF), platelet-derived growth factor (PDGF), polycystin, fibrillin,18 and hypoxia-inducible factor (HIF).19, 20 Figure 2 reviews the effects that potentially facilitate aneurysm formation. Therefore, we investigated 200 patients with intracranial aneurysms and 100 probands of a random sample of the normal population for sequence variations in the VHL tumor suppressor gene using DHPLC.
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c.463 + 43A > G (intron 2)
200 patients with intracranial aneurysms were molecularly analyzed for VHL to determine if it is a candidate gene for aneurysm formation using peripheral blood. Eight patients were analyzed in detail and determined to have the above SNP mutation (c.463+43A>G). The patients were only recorded to have an intracranial aneurysm (or dilatation of the cerebral artery). Any relation is unknown. This mutation has a large allele frequency and therefore a polymorphism that is likely non disease causing
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