Statins, bone, and neurofibromatosis type 1.
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.
Korf
Bruce R
BR
Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Kaul 230, Birmingham, AL, USA. bkorf@uab.edu
D000818:Animals; D020536:Enzyme Activators / Q000494:pharmacology* / Q000627:therapeutic use*; D006801:Humans; D008148:Lovastatin / Q000494:pharmacology* / Q000627:therapeutic use*; D051379:Mice; D009456:Neurofibromatosis 1 / Q000188:drug therapy*
D020536:Enzyme Activators; D008148:Lovastatin