Bone development in neurofibromatosis 1.

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 Hypotheses

journal_title

Medical hypotheses

authors

Abdel-Wanis ME,Kawahara N

doi

10.1016/s0306-9877(02)00225-6

keywords:

subject

Has Abstract

pub_date

2003-04-01 00:00:00

pages

459-62

issue

4

eissn

0306-9877

issn

1532-2777

pii

S0306987702002256

journal_volume

60

pub_type

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