The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum.
OBJECTIVE
Recent studies have revealed the involvement of calcification inhibitory proteins in the pathogenesis of pseudoxanthoma elasticum (PXE).


METHODS
We analyzed serum concentrations of the calcification inhibitor matrix Gla protein (MGP) in a large cohort of patients suffering from PXE (n=101), 34 first-degree relatives and 67 healthy controls. Moreover, we determined the distribution of the two MGP promoter polymorphisms c.-7G>A and c.-138T>C in the three cohorts.


RESULTS
We found significantly lower total MGP concentrations in the sera of PXE patients compared to healthy controls (p=0.0002). Furthermore, higher serum MGP concentrations could be correlated with a later PXE onset. Analysis of MGP promoter polymorphism frequencies revealed one MGP haplotype to be a potential protective co-factor in PXE.


CONCLUSIONS
Our findings point to a role of the local calcification inhibitor MGP in PXE manifestation.
Hendig
Doris
D
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Bad Oeynhausen, Germany.
Zarbock
Ralf
R
Szliska
Christiane
C
Kleesiek
Knut
K
Götting
Christian
C
D000328:Adult; D000368:Aged; D001798:Blood Proteins / Q000378:metabolism; D002114:Calcinosis / Q000378:metabolism / Q000473:pathology; D002135:Calcium-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011561:Pseudoxanthoma Elasticum / Q000378:metabolism / Q000473:pathology; D060749:alpha-2-HS-Glycoprotein; D000097568:Matrix Gla Protein
D001798:Blood Proteins; D002135:Calcium-Binding Proteins; D016326:Extracellular Matrix Proteins; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D060749:alpha-2-HS-Glycoprotein; D000097568:Matrix Gla Protein; C102029:ABCC6 protein, human; C556354:AHSG protein, human