Document Detail


The pathoetiology of neurofibromatosis 1.
MedLine Citation:
PMID:  21457932     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although a mutation in the NF1 gene is the only factor required to initiate the neurocutaneous-skeletal neurofibromatosis 1 (NF1) syndrome, the pathoetiology of the multiple manifestations of this disease in different organ systems seems increasingly complex. The wide spectrum of different clinical phenotypes and their development, severity, and prognosis seem to result from the cross talk between numerous cell types, cell signaling networks, and cell-extracellular matrix interactions. The bi-allelic inactivation of the NF1 gene through a "second hit" seems to be of crucial importance to the development of certain manifestations, such as neurofibromas, café-au-lait macules, and glomus tumors. In each case, the second hit involves only one cell type, which is subsequently clonally expanded in a discrete lesion. Neurofibromas, which are emphasized in this review, and cutaneous neurofibromas in particular, are known to contain a subpopulation of NF1-diploinsufficient Schwann cells and a variety of NF1-haploinsufficient cell types. A recent study identified a multipotent precursor cell population with an NF1(+/-) genotype that resides in human cutaneous neurofibromas and that has been suggested to play a role in their pathogenesis.
Authors:
Eeva-Mari Jouhilahti; Sirkku Peltonen; Anthony M Heape; Juha Peltonen
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2011-03-31
Journal Detail:
Title:  The American journal of pathology     Volume:  178     ISSN:  1525-2191     ISO Abbreviation:  Am. J. Pathol.     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-04-25     Completed Date:  2011-08-26     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  0370502     Medline TA:  Am J Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1932-9     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2011 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.
Affiliation:
Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.
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MeSH Terms
Descriptor/Qualifier:
Animals
Genes, Neurofibromatosis 1*
Genotype
Humans
Multipotent Stem Cells / pathology
Mutation
Neurofibromatosis 1 / genetics*,  pathology*
Phenotype
Comments/Corrections

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