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Congenitally abnormal plasminogen in juvenile ischemic cerebrovascular disease
T Nagayama1, Y Shinohara, M Nagayama
1Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan.
Insights
Congenital plasminogen abnormalities, a condition with reduced fibrinolytic activity, are linked to juvenile ischemic cerebrovascular disease. This suggests a potential risk factor for both arterial and venous occlusive events.
Area of Science:
- Biochemistry
- Genetics
- Vascular Biology
Background:
- Congenital plasminogen abnormalities are associated with reduced fibrinolytic activity.
- These abnormalities have primarily been linked to venous occlusive disease.
Observation:
- Three young adults with ischemic cerebrovascular disease presented with congenital plasminogen abnormalities and no other risk factors.
- Patients exhibited approximately 50% of normal plasma plasminogen activity despite normal antigen levels.
- DNA analysis identified heterozygosity for an abnormal plasminogen variant (Ala-601 to Thr-601).
Findings:
- Congenital plasminogen abnormalities are identified in young adults with ischemic cerebrovascular disease.
- Reduced plasminogen activity, not antigen level, is a key indicator.
- Specific genetic mutations in plasminogen are confirmed as the cause.
Implications:
- Congenital plasminogen abnormalities represent a potential risk factor for juvenile ischemic cerebrovascular disease.
- This risk extends to both arterial and venous cerebrovascular events.
- Understanding these genetic factors is crucial for diagnosing and managing young stroke patients.
Background And Purpose:
Congenitally abnormal plasminogen is characterized by markedly decreased fibrinolytic activity and has been reported mainly in association with venous occlusive disease.
Case Description:
We found three young adult patients (34, 45, and 27 years old at onset) with ischemic cerebrovascular disease, all of whom had congenital plasminogen abnormalities but no other known risk factors. Hemostatic tests of all three patients revealed plasma plasminogen activities at almost one half of the normal level despite normal plasma plasminogen antigen levels. They were found to be heterozygotes with abnormal plasminogen (normal Ala-601[GCT] to abnormal Thr-601[ACT]) by DNA sequence analysis after polymerase chain reaction.
Conclusions:
Congenital plasminogen abnormalities could be one of the risk factors of juvenile ischemic cerebrovascular disease of the arterial as well as venous type.