CBS 2019
CBSMD教育中心
中 文

推荐文献

Abstract

Recommended Article

European Bifurcation Club White Paper on Stenting Techniques for Patients With Bifurcated Coronary Artery Lesions Mechanisms and diagnostic evaluation of persistent or recurrent angina following percutaneous coronary revascularization Validation of High-Risk Features for Stent-Related Ischemic Events as Endorsed by the 2017 DAPT Guidelines 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure Management of Percutaneous Coronary Intervention Complications: Algorithms From the 2018 and 2019 Seattle Percutaneous Coronary Intervention Complications Conference The Prognostic Value of Exercise Echocardiography After Percutaneous Coronary Intervention Systematic Review for the 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines Impact of percutaneous coronary intervention extent, complexity and platelet reactivity on outcomes after drug-eluting stent implantation

Original Research2017 Aug 24;548(7668):413-419.

JOURNAL:Nature. Article Link

Correction of a pathogenic gene mutation in human embryos

Ma H, Marti-Gutierrez N, Mitalipov S et al. Keywords: genome editing; MYBPC3 mutation; inherited hypertrophic cardiomyopathy

ABSTRACT

Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR-Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response. Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template. By modulating the cell cycle stage at which the DSB was induced, we were able to avoid mosaicism in cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of off-target mutations. The efficiency, accuracy and safety of the approach presented suggest that it has potential to be used for the correction of heritable mutations in human embryos by complementing preimplantation genetic diagnosis. However, much remains to be considered before clinical applications, including the reproducibility of the technique with other heterozygous mutations.