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Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region

Aiqiu Wei1, Yangyang Wu1, Liqun Xiang1

  • 1Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, People's Republic of China.

Hematology (Amsterdam, Netherlands)
|March 5, 2021
PubMed

Insights

A novel mutation in the fibrinogen gene, Ala327Val, impairs fibrinogen function and structure, leading to congenital dysfibrinogenemia. This research clarifies the pathogenesis of this coagulation disorder.

Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Congenital dysfibrinogenemia (CD) is a coagulation disorder resulting from fibrinogen gene mutations.
  • The exact pathogenesis of CD remains incompletely understood.

Observation:

  • A novel heterozygous γ Ala327Val mutation was identified in an asymptomatic CD patient.
  • Functional studies included coagulation assays, aggregation tests, and fibrin clot lysis.

Findings:

  • The mutation significantly reduced fibrinogen activity and impaired fibrin clot structure, characterized by a looser network and increased pore size.
  • Thromboelastography revealed impaired fibrinogen function in patients with the mutation.

Implications:

  • The Ala327Val mutation alters fibrinogen structure in the D region, compromising its aggregation function.
  • This study reports a novel mutation contributing to congenital dysfibrinogenemia, enhancing understanding of its molecular basis.
Abstract

Keywords:
Congenital dysfibrinogenemiaaggregationcoagulationfibrinogengene mutationlysismolecular mechanism thromboelastography

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