Research scientists at the University of Pennsylvania have just made public their discovery of some tiny changes in some specific genes that suggest a rather strong genetic link between these changes and the development of autism spectrum disorder (ASD).  The research team has published its findings in the latest issue of the journal, Nature.

The two genetic variants that seem most closely linked to ASD occur on Chromosome 5 in genes that influence production of a protein that causes brain cells to stick together to form a connection as the nervous system develops.  The variant reduces brain cells’ ability to stick together.  The research team suggests repairing the damage to just one of these genes might eliminate ASD development by as much as 15%; more than 65% of all ASD patients in the study carried this particular variant.

The team, led by Dr. Hakon Hakonarson, also discovered variants in about 30 other genes grouped together.  This gene cluster produces proteins that enable each brain cell to migrate to an exact cellular location and attach itself to neighboring cells.

A third group of just-discovered genetic variants influences a cell’s waste-disposal system, which, when not functioning properly, makes it impossible for brain cells to stick together effectively.

Even though Hakonarson’s compelling discovery that these gene mutations can affect the interconnectedness of a developing brain in such a way that ASD develops, it doesn’t provide all the answers.  Hakonarson himself acknowledges the extreme genetic complexity represented by the disorder and the equally complex way environmental factors affect the human body.

This study was funded by the US National Institutes of Health.