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Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological

I Martínez-Martínez1, D J D Johnson, M Yamasaki

  • 1Centro Regional de Hemodonación, University of Murcia, Regional Campus of International Excellence Campus Mare Nostrum, Murcia, Spain.

Journal of Thrombosis and Haemostasis : JTH
|July 5, 2012
PubMed
Summary

A large in-frame insertion in antithrombin (SERPINC1) caused a rare type II deficiency. This mutation resulted in a stable, non-inhibitory protein, highlighting a new mechanism for serpin-related thrombotic disorders.

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Serpins require a metastable native conformation for protease inhibition.
  • Missense mutations can destabilize serpins, leading to protein misfolding and disease.
  • Antithrombin deficiency is a genetic risk factor for thrombosis.

Purpose of the Study:

  • To characterize a novel antithrombin deficiency caused by a large in-frame insertion in the SERPINC1 gene.
  • Investigate the structural and functional consequences of this insertion on antithrombin function.

Main Methods:

  • Functional, biochemical, and molecular analyses of the affected patient and family members.
  • Expression and purification of recombinant mutant antithrombin.
  • Calorimetry for stability assessment and X-ray crystallography for structural analysis.

Main Results:

  • Identified a 24 bp in-frame insertion in SERPINC1, leading to type II antithrombin deficiency with impaired heparin binding.
  • The mutant antithrombin was non-inhibitory, conformationally sensitive, and showed proteolytic cleavage at W49.
  • Crystal structure revealed the insertion annealed into beta-sheet A, maintaining a native reactive centre loop (RCL) and a hyperstable conformation.

Conclusions:

  • This is the first report of a large in-frame insertion causing a serpin deficiency.
  • The mutation allows proper protein folding, glycosylation, and secretion, resulting in a stable, non-inhibitory variant.
  • This finding expands the understanding of serpinopathies and their associated thrombotic risks.