WRN polymorphisms affect expression levels of plasminogen activator inhibitor type 1 in cultured fibroblasts.

ABSTRACT:

Background

Recessive mutations in WRN gene eliminate WRN protein function (helicase) and cause Werner syndrome. One of the most important clinical features of Werner syndrome patients are the premature onset and accelerated atherosclerosis process. Studies carried out on polymorphic WRN locus have shown that the alleles 1367R and 1074L confer protection for cardiovascular disease. Given that the levels of plasminogen activator inhibitor type 1 (PAI-1) were found to be significantly increased in Werner syndrome patients, is quiet possible that PAI-1 expression could be under regulation of WRN helicase. Therefore the purpose of this work was to evaluate the role of WRN polymorphism in modulating the expression of PAI-1.

Methods

In order to accomplish our aim, an array of prima

SUBMITTER: Castro E 

PROVIDER: S-EPMC2292137 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature