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A point mutation (Arg271-->Cys) of a homozygote for dysfunctional prothrombin, prothrombin Obihiro, which has a

T Miyata1, Y Z Zheng, A Kato

  • 1Laboratory of Thrombosis Research, National Cardiovascular Centre Research Institute, Suita, Japan.

British Journal of Haematology
|July 1, 1995
PubMed

Insights

A genetic mutation in the prothrombin gene causes prothrombin Obihiro, a dysfunctional protein leading to severe bleeding disorders. This defect prevents normal thrombin generation, impacting blood clotting.

Area of Science:

  • Hematology
  • Molecular Genetics
  • Biochemistry

Background:

  • Congenital bleeding disorders often stem from defects in coagulation factors.
  • Prothrombin is a critical protein in the blood coagulation cascade, essential for thrombin generation.

Observation:

  • A patient presented with a severe bleeding tendency and reduced fibrinogen clotting activity, despite normal prothrombin levels.
  • Genetic analysis identified a homozygous C-to-T mutation at nucleotide 7311 in exon VIII of the prothrombin gene.

Findings:

  • The identified mutation results in an Arg271Cys substitution at the factor Xa cleavage site.
  • This alteration prevents normal activation of prothrombin Obihiro by factor Xa, inhibiting thrombin formation.
  • Seven novel nucleotide changes and three Japanese-specific polymorphisms were also noted in the prothrombin gene, highlighting sequence variability.

Implications:

  • This finding elucidates the molecular basis of a dysfunctional prothrombin variant, prothrombin Obihiro.
  • Understanding this defect provides insight into the structure-function relationship of prothrombin and its activation mechanism.
  • The high sequence variability observed in specific gene regions may contribute to the diversity of prothrombin-related disorders.

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