Scientists isolate cell type in brain most affected by autism gene mutations

Leading cell biologists in UC San Francisco have identified a specific cell type in a particular part of the brain at a cruicial time in brain development can be a factor in autism development.

The research published in the Cell journal on November 21 marks a significant turning point in autism research, especially that of autism onset.

Researchers who have been using the cutting edge in gene technology and mapping, which were only honed a few years ago, have run large scale mapping and sequencing projects on cells thought to be responsible for autism have uncovered hundreds of genes relating to autism.

This research pinpointed nine genes which have been previously recognised in sequencing studies as having a profound influence on autism onset, and investigated their effects using precise maps of gene expression during human brain development.

The research showed that mutations caused in the cortical projection neurons in the deepest layers of the developing prefrontal cortex, during the middle period of foetal development were key to the onset of autism and ASD.

The study led by Prof Matthew State said that isolating these genes and running developmental scenarios from the mutations was a key step in understanding the nature of autism onset

He said:

Given the small subset of autism genes we studied, I had no expectation that we would see the degree of spatiotemporal convergence that we saw”

“This strongly suggests that, though there are hundreds of autism risk genes, the number of underlying biological mechanisms will be far fewer.This is a very important clue to advance precision medicine for autism toward the development of personalized and targeted therapies.”

“If there are 1,000 genes in the population that can contribute to risk in varying degrees and each has multiple developmental functions, it is not immediately obvious how to move forward to determine what is specifically related to autism.Without this, it is very difficult to think about how to develop new and better medications.”