Highly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression.

Hdl Handle:
http://hdl.handle.net/10147/207785
Title:
Highly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression.
Authors:
Norris, S; White, M; Mankan, A K; Lawless, M W
Affiliation:
Hepatology Research Division and Department of Clinical Medicine, Institute of, Molecular Medicine, Trinity College Dublin, St. James Hospital, Dublin, Ireland.
Citation:
Int J Immunogenet. 2010 Apr;37(2):125-33. Epub 2010 Feb 19.
Journal:
International journal of immunogenetics
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207785
DOI:
10.1111/j.1744-313X.2010.00904.x
PubMed ID:
20193033
Abstract:
Several abnormalities in the immune status of patients with hereditary haemochromatosis (HH) have been reported, suggesting an imbalance in their immune function. This may include persistent production of, or exposure to, altered immune signalling contributing to the pathogenesis of this disorder. Adhesion molecules L-, E- and P-Selectin, intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) are some of the major regulators of the immune processes and altered levels of these proteins have been found in pathological states including cardiovascular diseases, arthritis and liver cancer. The aim of this study was to assess L-, E- and P-Selectin, ICAM-1 and VCAM-1 expression in patients with HH and correlate these results with HFE mutation status and iron indexes. A total of 139 subjects were diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), 18 normal subjects heterozygous for the H63D mutation served as age-sex-matched controls. We observed a significant decrease in L-selectin (P = 0.0002) and increased E-selectin and ICAM-1 (P = 0.0006 and P = 0.0059) expression in HH patients compared with healthy controls. This study observes for the first time that an altered adhesion molecules profile occurs in patients with HH that is associated with specific HFE genetic component for iron overload, suggesting that differential expression of adhesion molecules may play a role in the pathogenesis of HH.
Language:
eng
MeSH:
Adult; Aged; Cell Adhesion Molecules/*blood; E-Selectin/blood; Female; Flow Cytometry; Gene Frequency; Genotype; Hemochromatosis/*blood/*genetics; Histocompatibility Antigens Class I/*genetics; Humans; Intercellular Adhesion Molecule-1/blood; Iron/metabolism; L-Selectin/blood; Male; Membrane Proteins/*genetics; Middle Aged; Mutation; P-Selectin/blood; Vascular Cell Adhesion Molecule-1/blood; Young Adult
ISSN:
1744-313X (Electronic); 1744-3121 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorNorris, Sen_GB
dc.contributor.authorWhite, Men_GB
dc.contributor.authorMankan, A Ken_GB
dc.contributor.authorLawless, M Wen_GB
dc.date.accessioned2012-02-01T10:44:38Z-
dc.date.available2012-02-01T10:44:38Z-
dc.date.issued2012-02-01T10:44:38Z-
dc.identifier.citationInt J Immunogenet. 2010 Apr;37(2):125-33. Epub 2010 Feb 19.en_GB
dc.identifier.issn1744-313X (Electronic)en_GB
dc.identifier.issn1744-3121 (Linking)en_GB
dc.identifier.pmid20193033en_GB
dc.identifier.doi10.1111/j.1744-313X.2010.00904.xen_GB
dc.identifier.urihttp://hdl.handle.net/10147/207785-
dc.description.abstractSeveral abnormalities in the immune status of patients with hereditary haemochromatosis (HH) have been reported, suggesting an imbalance in their immune function. This may include persistent production of, or exposure to, altered immune signalling contributing to the pathogenesis of this disorder. Adhesion molecules L-, E- and P-Selectin, intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) are some of the major regulators of the immune processes and altered levels of these proteins have been found in pathological states including cardiovascular diseases, arthritis and liver cancer. The aim of this study was to assess L-, E- and P-Selectin, ICAM-1 and VCAM-1 expression in patients with HH and correlate these results with HFE mutation status and iron indexes. A total of 139 subjects were diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), 18 normal subjects heterozygous for the H63D mutation served as age-sex-matched controls. We observed a significant decrease in L-selectin (P = 0.0002) and increased E-selectin and ICAM-1 (P = 0.0006 and P = 0.0059) expression in HH patients compared with healthy controls. This study observes for the first time that an altered adhesion molecules profile occurs in patients with HH that is associated with specific HFE genetic component for iron overload, suggesting that differential expression of adhesion molecules may play a role in the pathogenesis of HH.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshAgeden_GB
dc.subject.meshCell Adhesion Molecules/*blooden_GB
dc.subject.meshE-Selectin/blooden_GB
dc.subject.meshFemaleen_GB
dc.subject.meshFlow Cytometryen_GB
dc.subject.meshGene Frequencyen_GB
dc.subject.meshGenotypeen_GB
dc.subject.meshHemochromatosis/*blood/*geneticsen_GB
dc.subject.meshHistocompatibility Antigens Class I/*geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshIntercellular Adhesion Molecule-1/blooden_GB
dc.subject.meshIron/metabolismen_GB
dc.subject.meshL-Selectin/blooden_GB
dc.subject.meshMaleen_GB
dc.subject.meshMembrane Proteins/*geneticsen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshMutationen_GB
dc.subject.meshP-Selectin/blooden_GB
dc.subject.meshVascular Cell Adhesion Molecule-1/blooden_GB
dc.subject.meshYoung Adulten_GB
dc.titleHighly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression.en_GB
dc.contributor.departmentHepatology Research Division and Department of Clinical Medicine, Institute of, Molecular Medicine, Trinity College Dublin, St. James Hospital, Dublin, Ireland.en_GB
dc.identifier.journalInternational journal of immunogeneticsen_GB
dc.description.provinceLeinster-
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