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RSS FeedsIJMS, Vol. 23, Pages 5802: Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations (International Journal of Molecular Sciences)

 
 

22 may 2022 09:49:45

 
IJMS, Vol. 23, Pages 5802: Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations (International Journal of Molecular Sciences)
 


Factor V deficiency, an ultra-rare congenital coagulopathy, is characterized by bleeding episodes that may be more or less intense as a function of the levels of coagulation factor activity present in plasma. Fresh-frozen plasma, often used to treat patients with factor V deficiency, is a scarcely effective palliative therapy with no specificity to the disease. CRISPR/Cas9-mediated gene editing, following precise deletion by non-homologous end-joining, has proven to be highly effective for modeling on a HepG2 cell line a mutation similar to the one detected in the factor V-deficient patient analyzed in this study, thus simulating the pathological phenotype. Additional CRISPR/Cas9-driven non-homologous end-joining precision deletion steps allowed correction of 41% of the factor V gene mutated cells, giving rise to a newly developed functional protein. Taking into account the plasma concentrations corresponding to the different levels of severity of factor V deficiency, it may be argued that the correction achieved in this study could, in ideal conditions, be sufficient to turn a severe phenotype into a mild or asymptomatic one.


 
67 viewsCategory: Biochemistry, Biophysics, Molecular Biology
 
IJMS, Vol. 23, Pages 5801: Histone Modifications and Non-Coding RNAs: Mutual Epigenetic Regulation and Role in Pathogenesis (International Journal of Molecular Sciences)
IJMS, Vol. 23, Pages 5803: Regulator of G-Protein Signaling-4 Attenuates Cardiac Adverse Remodeling and Neuronal Norepinephrine Release-Promoting Free Fatty Acid Receptor FFAR3 Signaling (International Journal of Molecular Sciences)
 
 
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