Fralin Biomedical Research Institute finds therapy bypasses 22q11.2 deletion effects

Scientists at the Fralin Biomedical Research Institute, part of Virginia Tech, reported that an experimental therapy using the antioxidant N‑acetyl cysteine (NAC) can help brain cells overcome the effects of the 22q11.2 deletion syndrome in a mouse model. The treatment reduced oxidative stress within neurons, improved mitochondrial health, and restored growth of dendritic branches, leading to stronger synaptic connections.

Rather than repairing the missing genetic segment, the therapy activates an alternative network of genes that allows neurons to develop functional circuits despite the deletion. The researchers suggest that targeting cellular mechanisms, such as oxidative stress, may offer a new avenue for treating genetic brain disorders linked to the 22q11.2 deletion, which is a major risk factor for schizophrenia and is also associated with autism and cognitive challenges.

These pre‑clinical findings point to the possibility of developing treatments that bypass genetic lesions rather than correcting them directly, potentially expanding therapeutic options for a range of neurodevelopmental conditions.