Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients.
Christian Götting1, Alexandra Adam, Christiane Szliska
1Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Bad Oeynhausen, Germany. cgoetting@hdz.nrw.de
Clinical Biochemistry
|January 15, 2008
Summary
Pseudoxanthoma elasticum (PXE) patients show elevated P-selectin levels, a key cell adhesion molecule. These increases correlate with the ABCC6 gene status, suggesting a link to disease severity in this hereditary disorder.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting skin, eyes, and blood vessels.
- Cell adhesion molecules play a role in vascular health and inflammation.
Purpose of the Study:
- To investigate levels of soluble selectins (P-, E-, and L-selectin) in patients with Pseudoxanthoma elasticum.
- To determine the relationship between selectin levels and the genetic status of the ABCC6 gene in PXE.
Main Methods:
- Quantified soluble P-, E-, and L-selectin levels in 61 PXE patients.
- Analyzed the distribution of E-selectin S128R and P-selectin T715R variants.
- Correlated selectin levels with ABCC6 gene mutations.
Main Results:
- Significantly elevated P-selectin concentrations were observed in both male and female PXE patients.
- P-selectin levels were 1.5-fold higher in patients with two mutant ABCC6 alleles compared to those with at least one wild-type allele.
- E- and L-selectin levels remained within normal ranges, with no significant difference in polymorphism frequencies between patients and controls.
Conclusions:
- PXE patients exhibit elevated P-selectin levels.
- This elevation may be linked to increased oxidative stress and protease activity associated with PXE.
- P-selectin serves as a potential biomarker for Pseudoxanthoma elasticum.
