Researchers closing in on gene mutations linked to autism

A mutation in the gene that encodes a protein, SynGAP1, severely disrupts how the developing brain circuits organize themselves during a human’s first years of life.

Researchers from The Scripps Research Institute reported in the journal Cell (November 2012 issue) that they are discovering how genetic mutations can be responsible for the behavioral and cognitive problems found in people with an ASD.

SynGAP1 is estimated to cause disabilities in about 1 million people around the world. It is known to be directly involved in raising autism risk.

The authors explained that genetic mutations that cause ASDs generally affect synapses. A significant proportion of children with severe behavioral and intellectual impairments are believed to carry singly mutations in key neurodevelopmental genes.

Head researcher, Prof. Gavin Rumbaugh, said “In this study, we did something no one else had done before. Using an animal model, we looked at a mutation known to cause intellectual disability and showed for the first time a causative link between abnormal synapse maturation during brain development and life-long cognitive disruptions commonly seen in adults with a neurodevelopmental disorder. There are a few genes that can’t be altered without affecting normal cognitive abilities. SynGAP1 is one of the most important genes in cognition – so far, every time a mutation that disrupts the function of SynGAP1 has been found, that individual’s brain simply could not develop correctly. It regulates the development of synaptic function like no other gene I’ve seen.”