Tag: CRISPR

1. Haploinsufficiency of Sim1 or Mc4r in the hypothalamus result in an obesity phenotype in mice and humans. 2. In mice, CRISPR-mediated activation (CRISPRa) of the promoter or enhancer regions of the Sim1 or Mc4r genes via adeno-associated viral (AAV) delivery resulted in rescue of the obesity phenotype. Evidence Rating Level:...
1. The gene editing tool CRISPR-Cas9 was used to correct a mutant paternal MYBPC3 allele in human preimplantation embryos. 2. No off-target effects were detected. Evidence Rating Level: 1 (Excellent) Study Rundown: A dominant mutation in the gene MYBPC3 causes hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in otherwise...
1. Viral vectors were used to deliver the correct sequence for the ornithine transcarbamylase (OTC) gene, the guide sequence to locate OTC, and the gene for the Cas9 editing enzyme. 2. OTC-deficient newborn mice treated with the vectors showed restored OTC activity, decreased levels of toxic ammonia, as well...