Knocking down the gene that codes for the proteins normalizes the vocalizations.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The inhibitory cells misfire and contribute to social difficulties in mice that model the syndrome.
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
Contrary to conventional wisdom, most people with fragile X syndrome express the FMR1 gene — albeit improperly.
The discovery could help clinicians diagnose children who carry mutations in the gene, called SCN2A, and gauge their responses to potential therapies.
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
The approach prompts cultured cells to correct the genetic mutation in fragile X syndrome using their own DNA repair system, but it still needs to be tested further.
The gene-editing advances make it easier to target specific tissues in mice and detect off-target effects.