Statins, bone, and neurofibromatosis type 1

被引：0
作者：
Bruce R Korf
机构：
[1] University of Alabama at Birmingham,Department of Genetics
来源：
BMC Medicine | / 6卷
关键词：
Lovastatin; Neurofibroma; Malignant Peripheral Nerve Sheath Tumor; Neurofibromatosis Type; Nerve Sheath Tumor;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
相关论文
共 164 条
[11]  
Pivnick EK(1998)Double inactivation of NF1 in tibial pseudarthrosis Pathol Biol (Paris) 46 697-530
[12]  
Schorry EK(2002)A mouse model for learning and memory defects associated with neurofibromatosis type I J Child Neurol 17 622-1967
[13]  
Short MP(2004)Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1 J Bone Miner Res 19 983-294
[14]  
Tenconi R(2005)NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos Bone 36 793-undefined
[15]  
Tonsgard JH(2006)Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning Hum Mol Genet 15 2837-undefined
[16]  
Carey JC(2007)Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells Hum Mol Genet 16 874-undefined
[17]  
Kuorilehto T(2006)Multiple roles for neurofibromin in skeletal development and growth Clin Caner Res 12 5533-undefined
[18]  
Poyhonen M(2002)The Ras inhibitor farnesylthiosalicylic acid as a potential therapy for neurofibromatosis type 1 Nature 415 526-undefined
[19]  
Bloigu R(2005)Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1 Curr Biol 15 1961-undefined
[20]  
Heikkinen J(2008)The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1 JAMA 300 287-undefined
12345678910