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[Phenotypic detection and structure analysis of a PC missense mutation (Met406Ile) resulted in venous

Lan Zhang1, Hao-yu Deng, Jun Xie

  • 1Department of Vascular Surgery, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China.

Zhonghua Yi Xue Za Zhi
|December 5, 2013
PubMed

Insights

A protein C (PC) missense mutation, Met406Ile, causes hereditary venous thromboembolism by destabilizing PC structure. This genetic defect reduces PC activity, leading to blood clot formation.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Context:

  • Hereditary protein C (PC) deficiency is a significant risk factor for venous thromboembolism (VTE).
  • Identifying the specific genetic mutations and their structural consequences is crucial for understanding VTE pathogenesis.
  • This study investigates a novel PC missense mutation linked to recurrent VTE in a multi-generational family.

Purpose:

  • To identify the phenotypic characteristics and structural impact of a specific protein C (PC) missense mutation (Met406Ile).
  • To analyze the mechanism by which this mutation leads to venous thromboembolism.
  • To perform pedigree research and molecular analysis of affected individuals.

Summary:

  • Pedigree analysis revealed hereditary PC deficiency. Chromogenic assays showed reduced PC activity in affected individuals.
  • Direct sequencing identified the c.1218G > A (Met406Ile) missense mutation in the PROC gene in affected family members.
  • Homology modeling demonstrated that the Met406Ile mutation disrupts PC structure, decreasing van der Waals interactions and increasing instability, correlating with reduced PC activity and VTE risk.

Impact:

  • This research elucidates the molecular mechanism underlying a specific genetic cause of venous thromboembolism.
  • The findings contribute to a better understanding of protein C function and dysfunction in thrombotic disorders.
  • Identifies a novel mutation associated with VTE, potentially aiding in genetic screening and risk assessment for affected families.
Abstract

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