Recent progress in gene therapy for familial hypercholesterolemia treatment

Luo, Yaxin; Hou, Yaofeng; Zhao, Wenwen; Yang, Bei

doi:10.1016/j.isci.2024.110641

iScience

2024

DOI: 10.1016/j.isci.2024.110641

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Recent progress in gene therapy for familial hypercholesterolemia treatment

Yaxin Luo,

Yaofeng Hou,

Wenwen Zhao

et al.

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2024

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Cited by 1 publication

References 166 publications

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Universal base editing for hemophilia B

Baatartsogt,

Kashiwakura,

Hiramoto

et al. 2024

Preprint

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The repair of pathological gene variants is an ultimate aim for treating genetic diseases; however, it is not practical to develop different therapeutic reagents for each of the many variants that can occur in a gene. Here, we investigated whether base editing to induce a gain-of-function variant in blood coagulation factor IX (FIX) can increase FIX activity as a treatment strategy for hemophilia B. We engineered a G:C to A:T substitution at c.1151 of F9 by cytosine base editing to generate R338Q, known as the Shanghai F9 variant, which markedly potentiates coagulation factor activity. An adeno-associated virus vector harboring the base editor converted more than 60% of the target G:C to A:T and increased FIX activity in HEK293 cells harboring patient-derived F9 variants, as well as in knock-in mice harboring a human F9 cDNA. Furthermore, administration of lipid nanoparticles embedded with the base editor mRNA and gRNA increased FIX activity in mice. These data indicate that cytosine base editing to generate R338Q in FIX can become a universal genome editing strategy for hemophilia B.

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Universal base editing for hemophilia B

Baatartsogt,

Kashiwakura,

Hiramoto

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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Recent progress in gene therapy for familial hypercholesterolemia treatment

Cited by 1 publication

References 166 publications

Universal base editing for hemophilia B

Universal base editing for hemophilia B

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