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Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to
K Nakagawa1, H Tsuji, H Masuda
1Second Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
Insights
Protein C deficiency increases risks for blood clots. A specific gene mutation causing a protein C heavy chain deficiency was identified in a patient with acute myocardial infarction.
Area of Science:
- Biochemistry
- Genetics
- Hematology
Background:
- Protein C is crucial for regulating blood coagulation and fibrinolysis.
- Heterozygous protein C deficiency elevates the risk of thromboembolic events, particularly venous thrombosis.
Observation:
- A patient presented with acute myocardial infarction (AMI) and was diagnosed with protein C deficiency.
- Genetic analysis revealed a specific single base mutation (C6182T) in exon 7 of the protein C gene.
Findings:
- The identified mutation (Arg6182Stop) leads to a premature stop codon, likely affecting the protein C heavy chain.
- This genetic defect resulted in reduced protein C antigen and activity levels in the patient.
- The mutation was familial, identified in the patient's son and confirmed using differential termination of the primer extension (DTPE) technique.
Implications:
- This case highlights a novel genetic cause of protein C deficiency linked to arterial thrombosis (AMI).
- Understanding specific mutations is key to diagnosing and managing thrombotic risks associated with protein C deficiency.
- Further research can explore the genotype-phenotype correlations in protein C deficiency and its impact on both venous and arterial systems.
Abstract:
Protein C has an important role in the regulatory mechanisms of coagulation and fibrinolysis. In patients with heterozygous protein C deficiency, there is an increased risk for thromboembolic disease, especially in the venous system. We describe a patient with protein C deficiency presenting with an acute myocardial infarction (AMI). Direct sequence analysis of the whole protein C gene detected a single base mutation at exon 7; 157 [Arg(CGA) to stop codon (TGA): 6182 C to T]. Thus, the patient was suspected to have a deficiency of the protein C heavy chain molecule, resulting in both a low protein C antigen and activity level. The mutation was also found in the propositus' son and was confirmed by differential termination of the primer extension (DTPE).