What is the Origin of Prothrombin Gene Mutation?

This specific genetic variant was precisely identified in the mid-1990s through molecular genetic studies rigorously investigating the inherited causes of thrombophilia, or the pathological predisposition to forming blood clots. The discovery of this specific mutation provided a clear molecular link between a defined genetic variant and an increased lifetime risk of a major vascular event. The term is a direct and specific reference to the gene and the exact nucleotide change within its sequence.

What is the Mechanism of Prothrombin Gene Mutation?

The G20210A mutation is located in the non-coding region of the prothrombin gene, specifically affecting the gene's messenger RNA processing or overall stability. This structural change leads to a higher steady-state level of prothrombin mRNA, resulting in the overproduction of the prothrombin protein in the liver. The elevated circulating prothrombin is then more readily converted to thrombin, increasing the overall clotting potential of the blood, a risk often amplified by the pro-coagulant effects of certain hormonal treatments.

Prothrombin Gene Mutation

Meaning

The Prothrombin Gene Mutation, specifically the G20210A variant, is a common genetic polymorphism found in the gene encoding prothrombin, which is also known as coagulation factor II. This single base pair change results in a measurable increase in the production of prothrombin, consequently leading to elevated plasma levels of this key clotting factor. Clinically, this mutation is a significant inherited risk factor for venous thromboembolism (VTE), which is a crucial consideration when prescribing exogenous hormonal therapies like estrogen.