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Keratin mutations and intestinal pathology
Author(s) -
Owens DW,
Lane EB
Publication year - 2004
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1646
Subject(s) - keratin , inflammatory bowel disease , keratin 8 , disease , keratin 5 , pathology , ulcerative colitis , keratin 6a , keratin 7 , mutation , biology , medicine , immunology , intermediate filament , genetics , gene , immunohistochemistry , cytokeratin , cytoskeleton , cell
Whilst the importance of mutations in a wide range of keratins in skin fragility disorders is now well established, there is much less evidence for simple epithelial keratin involvement in disease. Some simple epithelial keratin mutations have been reported in liver cirrhosis and pancreatitis patients, and recently mutations in the simple epithelial keratin K8 were identified in a group of patients with inflammatory bowel disease (Crohn disease or ulcerative colitis). In comparison with the mutations seen in epidermal keratins, these simple epithelial mutations would be predicted to have mild consequences, although analysis shows that they do have a distinct effect. This review article discusses the evidence that these mutations are a predisposing factor for inflammatory bowel disease. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.