Last February an exciting paper on genes and autism was published by the prestigious journal Cell.

Dozens of researchers from Boston, New York, San Francisco, Helsinki, Aarhus, Dublin and many more universities came together to sequence thousands of genes of neurotypical and neurodivergent subjects.

The picture I prepared explains (or tries to) what the researchers did.

DNA, our genetic code, is like a book. The book is made by sentences (the genes). And sentences are composed by words and blank spaces. The words are exons and the black spaces are introns.

Researchers sequenced (which a fancy word to say “read”) the exons of lots of people, one third of them diagnosed with autism to see what part of the genes were different between neurotypical and neurodivergent individuals.

They found out that many genes are involved at some level, to be exactly, they implicated 102 genes in the risk for autism spectrum disorder.

The majority of these genes are expressed in excitatory and inhibitory neurons, other regulate other genes or the neuronal communication. That means that these genes play a role in the developmental and functional modifications of the neurobiology of autism.

This is an important discovery to unravel what happens to neurons and how an autistic brain works.

Reference:

Satterstrom et al., “Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism”, https://doi.org/10.1016/j.cell.2019.12.036