CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by < em > TTN < /em > Truncation Variants

CONCLUSIONS: TTN CRISPR activation rescued TTNtv-related functional deficits despite increasing truncated TTN levels, which provides evidence to support haploinsufficiency as a relevant genetic mechanism underlying heterozygous TTNtvs. CRISPR activation could be developed as a therapeutic to treat a large proportion of TTNtvs.PMID:38235591 | DOI:10.1161/CIRCULATIONAHA.123.063972

Source: Circulation - January 18, 2024 Category: Cardiology Authors: Shahnaz Ghahremani Aditya Kanwal Anthony Pettinato Feria Ladha Nicholas Legere Ketan Thakar Yanfen Zhu Harianto Tjong Andrea Wilderman W Tom Stump Lina Greenberg Michael J Greenberg Justin Cotney Chia-Lin Wei J Travis Hinson Source Type: research