SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.

ABSTRACT:

Background

To investigate whether one or more SAMHD1 gene mutations are associated with cerebrovascular disease in the general population using a Chinese stroke cohort.

Methods

Patients with a Chinese Han background (N = 300) diagnosed with either cerebral large-artery atherosclerosis (LAA, n = 100), cerebral small vessel disease (SVD, n = 100), or other stroke-free neurological disorders (control, n = 100) were recruited. Genomic DNA from the whole blood of each patient was isolated, and direct sequencing of the SAMHD1 gene was performed. Both wild type and mutant SAMHD1 proteins identified from the patients were expressed in E. coli and purified; then their dNTPase activities and ability to form stable tetramers were analysed in vitro.

Results

Three heterozygous mut

SUBMITTER: Li W 

PROVIDER: S-EPMC4609382 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature