Mattia Zaghi, Fabiana Longo, Luca Massimino, Alicia Rubio, Simone Bido, Pietro Giuseppe Mazzara, Edoardo Bellini, Federica Banfi, Paola Podini, Francesca Maltecca, Alessio Zippo, Vania Broccoli, Alessandro Sessa
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...
June 1, 2023: Molecular Autism