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pubmed:abstractText |
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haploinsuffiency probably accounts for some aspects of the non-tumor phenotype. The protein product, neurofibromin, is a Ras GTPase-activating protein, and various Ras pathway inhibitors are being tested in preclinical models and clinical trials for effectiveness in treating NF1 complications. This month in BMC Medicine, a paper by Kolanczyk et al describes a preclinical mouse model for tibial dysplasia and provides evidence that the drug lovastatin - in use to treat cardiovascular disease - may be beneficial, opening the door to clinical trials in humans.
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pubmed:affiliation |
Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Kaul 230, Birmingham, AL, USA. bkorf@uab.edu
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