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Factor V (Arg 506-->Gln) mutation in young survivors of myocardial infarction
D Ardissino1, F Peyvandi, P A Merlini
1Division of Cardiology, I.R.C.C.S., Policlinico San Matteo, Pavia, Italy.
Insights
The factor V (Arg 506 --> Gln) mutation, linked to venous clots, was studied in young myocardial infarction patients. This genetic mutation was not found to be associated with premature heart attacks in the study group.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Hematology
Background:
- Activated Protein C (APC) resistance is often caused by the factor V (Arg 506 --> Gln) mutation, a known risk factor for venous thromboembolic disease.
- The prevalence of this mutation in young patients experiencing arterial thrombotic events, specifically myocardial infarction, remains less understood.
Purpose of the Study:
- To investigate the frequency of the factor V (Arg 506 --> Gln) mutation in young patients diagnosed with myocardial infarction.
- To compare the mutation's prevalence in myocardial infarction patients with that of a matched control group.
Main Methods:
- A cohort of 100 young patients with myocardial infarction was recruited.
- 100 age- and sex-matched healthy individuals served as controls.
- Genotyping was performed to identify heterozygotes and homozygotes for the factor V (Arg 506 --> Gln) mutation in both groups.
Main Results:
- The factor V (Arg 506 --> Gln) mutation was identified in one patient (1%) with myocardial infarction.
- Two controls (2%) were found to be heterozygotes for the mutation.
- No individuals in either group were found to be homozygotes for the mutation.
Conclusions:
- Heterozygosity for the factor V (Arg 506 --> Gln) mutation is not associated with an increased risk of premature myocardial infarction.
- The findings suggest that this specific genetic factor does not play a significant role in the etiology of early-onset heart attacks.
Abstract:
Many young patients with venous thromboembolic disease are partially resistant to the anticoagulant action of activated protein C as a result of factor V (Arg 506 --> Gln) mutation. The frequency of this mutation in young patients with arterial thrombotic diseases, such as myocardial infarction, is less well established. We studied 100 young patients with myocardial infarction and 100 age- and sex-matched controls. One patient (1%; 95% CL 0.05-6.2) and two controls (2%; 95% CL 0.3-7.7) were heterozygotes for the mutation; there was no homozygote in either group. Hence, premature myocardial infarction is not associated with heterozygosity for factor V (Arg 506 --> Gln) mutation.