Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries. This is illustrated by a woman recently evaluated in our Neurofibromatosis Program who had multiple cerebrovascular and renovascular abnormalities. To determine the contribution ofNF1expression to NF1 vasculopathy, the expression of theNF1gene product, neurofibromin, was examined in blood vessels. Neurofibromin was detected in the endothelial cell layer of rat cerebral vessels, renal arteries, and aorta by immunohistochemistry. Cultured bovine cerebral endothelial cells were found to expressNF1mRNA by RT-PCR and neurofibromin by Western immunoblotting and immunocytochemistry. Neurofibromin expression was also detected in the smooth muscle layer of the aorta but not of cerebral or renal vessels. The vascular abnormalities of NF1 are reviewed and possible pathogenesis with respect to neurofibromin expression is discussed.
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