Bidirectional control of Chd2 haploinsufficiency

NIH RePORTER · NIH · R01 · $521,059 · view on reporter.nih.gov ↗

Abstract

ABSTRACT Major advances have been made in mapping the genetic basis of epilepsy and other neurodevelopmental disorders (NDDs). In many cases, a candidate gene mutation has been identified, but there is no robust understanding of the neuronal causes for the particular disorder. Mutations in genes encoding chromatin regulators are commonly identified in human NDDs, with intellectual disability, autism and/or epilepsy often co- occurring in the same individual. Our recent work showed that mice with germline heterozygous mutations in Chd2 exhibit pathological changes across genomic, anatomical, electrophysiological and behavioral domains. Here, we propose studies to bidirectionally control Chd2 dosage in the developing or adult brain. Our approach involves a combination of sophisticated cellular, molecular, pharmacologic and electrophysiological approaches in conditional Chd2+/- mice and human-derived neurons. If successful, our results will provide important new information about the effects of chromatin regulators in driving NDD-associated pathologies in vivo and would provide critical proof-of-concept for the therapeutic potential of pharmacologically increasing Chd2 expression that could be rapidly translated into a new targeted therapy for Chd2 haploinsufficiency.

Key facts

NIH application ID
10758254
Project number
5R01NS126399-02
Recipient
UNIVERSITY OF CALIFORNIA-IRVINE
Principal Investigator
Robert F Hunt
Activity code
R01
Funding institute
NIH
Fiscal year
2024
Award amount
$521,059
Award type
5
Project period
2023-01-01 → 2027-12-31