SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis
Joint Authors
Xin, Baozhong
Yan, Junpeng
Wu, Ying
Hu, Bo
Wang, Yilong
Ahn, Jinwoo
Skowronski, Jacek
Zhang, Zaiqiang
Wang, Yongjun
Wang, Heng
Liu, Liping
Li, Wei
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-10-04
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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 mutations, including two missense mutations c.64C>T (P22S) and c.841G>A (p.E281K) and one splice site mutation c.696+2T>A, were identified in the LAA group with a prevalence of 3%.
No mutations were found in the patients with SVD or the controls ( p = 0.05 ).
The mutant SAMHD1 proteins were functionally impaired in terms of their catalytic activity as a dNTPase and ability to assemble stable tetramers.
Conclusions.
Heterozygous SAMHD1 gene mutations might cause genetic predispositions that interact with other risk factors, resulting in increased vulnerability to stroke.
American Psychological Association (APA)
Li, Wei& Xin, Baozhong& Yan, Junpeng& Wu, Ying& Hu, Bo& Liu, Liping…[et al.]. 2015. SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1056574
Modern Language Association (MLA)
Li, Wei…[et al.]. SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1056574
American Medical Association (AMA)
Li, Wei& Xin, Baozhong& Yan, Junpeng& Wu, Ying& Hu, Bo& Liu, Liping…[et al.]. SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1056574
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1056574