Medical genetics

The researches find that the mutations in parts of non-coding DNA know as “Junk DNA” that  lead to autism. Because This is the first study of its kind to connect the dots between autism and the human genome. Therefore The study titled; “Whole-genome deep-learning analysis identifies contribution of non-coding mutations to autism risk;” is publish this week in the journal Nature Genetics.

Non-coding mutations

The research is led by Olga Troyanskaya, deputy director for genomics at the Flatiron Institute’s Center for Computational Biology (CCB) in New York City and a professor of computer science at Princeton University. Troyanskaya worked alongside Robert Darnell; a Professor of Cancer Biology at Rockefeller University and an investigator at the Howard Hughes Medical Institute.

The scientists used artificial intelligence software to scan the genome sequences of 1790 people with autism; along with their siblings and parents who did not have autism. Inherit mutations are exclude from the results. This meant that the genomes of participants with a family history of autism were only pick up on if their DNA contain spontaneous mutations; rather than mutations they have inherit from their parents.

Deputy director for genomics

The AI aspect of the study allowed the team to accurately connect the DNA mutations detected to the development of autism in the individuals. Study co-author; Jian Zhou, said that there are many other diseases such as cancers and heart disease that could be evaluated using these techniques:  “This enables a new perspective on the cause of not just autism; but many human diseases.”

Only around 1 to 2% of the genome is make up of genes that encode proteins. These proteins regulate the various functions of cells throughout the body. Much of the remaining non-coding regions serve to regulate gene expression. The scientists noted that some had mutations in the regions that did not code for any proteins while some had mutations in regions with coding functions. Both were similarly associated with autism.

Various functions of cells

Only around 1 to 2% of the genome is made up of genes that code for proteins. The proteins then regulate the various functions all over the body. The rest of the genome works by regulating the coding regions of the genes. When the mutations were seen in the coding regions of the genes, there was a 30% association with autism. On the other hand the other cases of autism where there was no positive family history, the connection remained unclear. This prompted them to explore the non-coding regions of the genome to see if there are any connections between the two.