Neuronal actin cytoskeleton gain of function in the human brain.

ABSTRACT:

Background

While advancements in imaging techniques have led to major strides in deciphering the human brain, successful interventions are elusive and represent some of the most persistent translational gaps in medicine. Human restricted CHRFAM7A has been associated with neuropsychiatric disorders.

Methods

The physiological role of CHRFAM7A in human brain is explored using multiomics approach on 600 post mortem human brain tissue samples. The emerging pathways and mechanistic hypotheses are tested and validated in an isogenic hiPSC model of CHRFAM7A knock-in medial ganglionic eminence progenitors and neurons.

Findings

CHRFAM7A is identified as a modulator of intracellular calcium dynamics and an upstream regulator of Rac1. Rac1 activation re-designs the actin cytoskel

SUBMITTER: Szigeti K 

PROVIDER: S-EPMC10404607 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature