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The discovery of the novel FVNara mutation may afford new insights into the molecular mechanisms of APC resistance, as it is located far from known APC-cleavage sites.
In this issue of Blood, Nogami et al report on a novel factor V (FV) gene mutation (FV Trp1920→Arg, FVNara) associated with activated protein C (APC) resistance and a severe thrombotic phenotype in a young Japanese patient. Since the affected amino acid residue is located in the light chain of FV, far from the known APC-cleavage sites, this discovery may afford new insights into the molecular mechanisms of APC resistance.
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Elisabetta Castoldi (2014) studied this question.
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