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Hereditary protein S deficiency leads to ischemic stroke
Zhao-Hui Wang1, Zhi-Jun Zhao2, Kang Xu3
1Department of Neurology, Hanyang Hospital, Wuhan University of Science and Technology, Wuhan, Hubei 430050. P.R. China.
Molecular Medicine Reports
|May 23, 2015
Summary
A protein S (PS) gene mutation caused low PS activity and thrombosis in a family. This study investigated the molecular basis of PS deficiency linked to ischemic stroke, revealing impaired protein secretion.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Hereditary protein S (PS) deficiency is a known risk factor for venous thromboembolism.
- The link between PS deficiency and arterial thrombotic diseases like ischemic stroke remains unclear.
Purpose of the Study:
- To investigate the molecular mechanisms of ischemic stroke in a family with a protein S gene mutation.
- To analyze the correlation between PS gene mutations, PS activity, and thrombotic events.
Main Methods:
- Measured plasma antithrombin, protein C, and PS activity.
- Amplified and sequenced the PROS1 gene.
- Analyzed cellular localization and expression of PS in HEK-293 cells.
Main Results:
- The proband exhibited significantly reduced plasma PS activity (38.9%).
- A PROS1 c.1486_1490delGATTA frameshift mutation was identified, leading to a premature termination codon.
- The mutation correlated with low PS activity in the family, impaired cytoplasmic aggregation, and reduced secretion/expression of the mutant PS protein.
Conclusions:
- A mutation in the protein S gene was identified as the likely cause of thrombosis in this family.
- Further research is needed to clarify the relationship between protein S deficiency and ischemic stroke.
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