Mutation in the mitochondrial chaperone TRAP1 leads to autism
Evidence suggests mitochondrial homeostasis plays a role in autism spectrum disorders (ASDs), but the causal relationships remain unclear.
The researchers identified a novel TRAP1 p.Q639* mutation in mitochondrial chaperonin.
Knock-in Trap1 p.Q641* mice display social deficits, more pronounced in males. Sex-specific changes in dendritic spine density, morphology and basal synaptic transmission are observed in Trap1 p.Q641* mice.
Decreased number of presynaptic mitochondria and changes in mitochondrial metabolism are detected in Trap1 p.Q641* mice.
https://www.embopress.org/doi/full/10.1038/s44321-024-00147-6
