Abstract:
:Bony abnormalities are common findings in cases of neurofibromatosis 1. We might hypothesize that neurofibromin, the protein encoded by the neurofibromatosis 1 gene, plays important roles in bone development. Loss of function of oligodendrocyte-myelin glycoprotein gene and increased activity of ras p21 might increase the level of c-fos proto-oncogene in bones with formation of fibrous dysplasia-like tissue. Also, increased ras p21 might disturb collagen I synthesis by osteoblasts. Moreover, increased ras activity might increase the mitogenic signals to the nucleus through mitogen-activated protein kinase (MAPK) and disturb the level of the transcription factor core-binding factor alpha(1) (Cbfa1). Abnormal fibrous tissue and neurofibromas formed at the site of pseudarthrosis might represent abnormal response of periosteal fibroblasts for injury, an effect simulating the response of skin fibroblasts in neurofibromatosis 1 to injury.
journal_name
Med Hypothesesjournal_title
Medical hypothesesauthors
Abdel-Wanis ME,Kawahara Ndoi
10.1016/s0306-9877(02)00225-6keywords:
subject
Has Abstractpub_date
2003-04-01 00:00:00pages
459-62issue
4eissn
0306-9877issn
1532-2777pii
S0306987702002256journal_volume
60pub_type
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