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Elevated serum levels of intercellular adhesion molecule ICAM-1 in Pseudoxanthoma elasticum.

BACKGROUND: Pseudoxanthoma elasticum (PXE, OMIM 177850 and 264800) is a rare heritable disorder predominantly affecting the skin, the eyes and the vascular system. The disease is caused by mutations in the ABCC6 gene and is characterized by calcification and extracellular matrix remodeling, including alterations of the vessel walls. Here, we investigated the cell adhesion molecules ICAM-1 in PXE patients.

METHODS: Soluble ICAM-1 was determined in 58 non-consanguineous PXE patients by quantitative sandwich enzyme immunoassay. The allelic frequencies of the ICAM-1 variant p.K469E were analyzed in patients and age- and sex-matched controls.

RESULTS: Soluble ICAM-1 levels were significantly elevated in male and female PXE patients (p<0.02 and p<0.001, respectively). In addition, the ICAM-1 concentration correlated with the ABCC6 gene status of the PXE patients. The ICAM variant p.K469E genotypes were not different in PXE patients and age- and sex-matched controls.

CONCLUSIONS: Our data show for the first time increased ICAM-1 concentrations in PXE patients, potentially due to the chronic oxidative stress and elevated protease activity followed by extracellular matrix remodeling which have been previously observed in PXE patients.

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