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

Abstract

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.