CBS 2019
CBSMD教育中心
中 文

推荐文献

Abstract

Recommended Article

2017 ESC Guidelines for the management of acute myocardial infarction in patients presenting with ST-segment elevation: The Task Force for the management of acute myocardial infarction in patients presenting with ST-segment elevation of the European Society of Cardiology (ESC) Contemporary Management of Cardiogenic Shock: A Scientific Statement From the American Heart Association PCI Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock Guided de-escalation of antiplatelet treatment in patients with acute coronary syndrome undergoing percutaneous coronary intervention (TROPICAL-ACS): a randomised, open-label, multicentre trial Volume brings value Predicting lifetime risk for developing atherosclerotic cardiovascular disease in Chinese population: the China-PAR project Clinical Implications of Periprocedural Myocardial Injury in Patients Undergoing Percutaneous Coronary Intervention for Chronic Total Occlusion: Role of Antegrade and Retrograde Crossing Techniques Obesity, Diabetes, and Acute Coronary Syndrome: Differences Between Asians and Whites

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.