SETD5 haploinsufficiency affects mitochondrial compartment in neural cells.

ABSTRACT:

Background

Neurodevelopmental disorders (NDDs) are heterogeneous conditions due to alterations of a variety of molecular mechanisms and cell dysfunctions. SETD5 haploinsufficiency leads to NDDs due to chromatin defects. Epigenetic basis of NDDs has been reported in an increasing number of cases while mitochondrial dysfunctions are more common within NDD patients than in the general population.

Methods

We investigated in vitro neural stem cells as well as the brain of the Setd5 haploinsufficiency mouse model interrogating its transcriptome, analyzing mitochondrial structure, biochemical composition, and dynamics, as well as mitochondrial functionality.

Results

Mitochondrial impairment is facilitated by transcriptional aberrations originated by the decrease of the SETD5

SUBMITTER: Zaghi M 

PROVIDER: S-EPMC10233863 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature