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Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
Author(s) -
Hamilton SJ,
Friedman JM
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.580501.x
Subject(s) - neurofibromin 1 , neurofibromatosis , pathogenesis , blood vessel , pathology , vascular smooth muscle , smooth muscle , medicine , vascular disease , endothelium , disease , cancer research , biology , endocrinology
Intrinsic lesions of arterial walls are an important manifestation of neurofibromatosis 1 (NF1). Neurofibromin is expressed in blood vessel endothelial and smooth muscle cells, and NF1 vasculopathy may result from an alteration of neurofibromin function in these cells. Elucidation of the role of neurofibromin in the maintenance and repair of blood vessels may lead to novel approaches to the treatment of NF1 vasculopathy and vascular disease in general.