The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones

(1) Background: Congenital factor (F) VII deficiency is caused by mutations in the F7 gene. Patients with modest differences FVII levels may display large clinical severity. The variant p.A354V-p.P464Hfs associated reduced antigen and activity. aim of study was to investigate manifestation this underlying molecular mechanisms. (2) Methods: Analyses were conducted 37 homozygous patients. recombinant produced mammalian cells. (3) Results: We report a variation phenotypes, which points out genetic acquired components beyond as source variability. In contrast, patients displayed similarly plasma higher than its Comparative analysis samples from subset indicated presence an elongated indistinguishable migration. Treatment cells chemical chaperone 4-phenylbutyrate (4-PBA) improved intracellular trafficking increased secretion conditioned medium up 2-fold. However, effect 4-PBA on biological activity marginal. (4) Conclusions: Chemical chaperones can be used biochemical tools fate trafficking-defective variant.