Genes that make us human, make us ill

The specific regions of human genome known as human accelerated regions (HARs) contain genes that shape complex social and cognitive behaviours, setting humans apart from chimpanzees, their closest kin, during evolution.

However, little is known about the potential effects of genetic mutations that accumulate in those genome regions.

The HARs have been found to contain a variety of genetic mutations implicated in autism and other neurodevelopmental disorders, says a new study in Cell¹. “This research brings together the study of intellectual disability and autism and the study of human brain evolution, giving us a method to study disease genetics and identify those parts of our genome that are unique to humans,” says lead scientist Christopher A. Walsh.  

Sequencing protein-coding and non-coding parts of HARs in American and Middle Eastern autistic children and healthy individuals, the neurogeneticists from Boston Children’s Hospital, US, Kuwait Center for Autism, Kuwait, and United Arab Emirates University, United Arab Emirates, concluded that genes in HARs regulate the activity of other genes. 

For instance, more than 40% of the HAR genes regulate the activities of other genes in the brain and at least two dozen mutations there have been linked to important roles in brain structure and function.  

“We identified mutations that disrupt the on-off switches of genes, resulting in autism, it has some relevance to therapeutic potential as well,” says Walsh. 

Sign-up to receive our e-alert update every two weeks to keep up with everything new on the portal.