CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants.

Shahnaz GhahremaniAditya Kanwal Anthony M Pettinato Feria A LadhaNicholas LegereKetan ThakarYanfen ZhuHarianto Tjong Andrea WildermanW Tom StumpLina Greenberg Michael J Greenberg Justin L CotneyChia-Lin WeiJ Travis Hinson

Published in: Circulation (2024)

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.

Keyphrases

genome wide
genome editing
crispr cas
traumatic brain injury
copy number
early onset
gene expression