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Neurofibromatosis 1 mRNA Expression in Blood Vessels

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Abstract

Vascular hypertrophic lesions occur in neurofibromatosis type 1 (NF1). The role of the gene which causes NF1 in the growth and development of blood vessels is not known. mRNA expression of the NF1 gene was studied in blood vessels in the transition between intact and culture and in quiescent and proliferative conditions. The expression and alternative splicing pattern of the catalytic domain of NF1 consistently changed in proliferating cells, supporting a role for this gene in the regulation of growth of vascular smooth muscle and the vascular pathology in NF1.

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    Cases detailing neurofibromatous involvement of the adventitia of blood vessels have also been published [3]. Because neurofibromatosis is a disorder characterized by tumor formation in tissues of neural crest origin and because cells contributing to vascular smooth muscle proliferation in the aorta and its branches are derived from neural crest, it has been suggested that blood vessels may express the NF1 mutation [4]. If this is indeed the case, abnormal proliferation of neural crest cells could account for blood vessel degeneration [1] and subsequent hemorrhage.

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