Scientists recently started to have a better understanding of how the human genome can hide many details about each individual, including genetic mutations. Deciphering these stretches of DNA can lead to surprising discoveries. A team of researchers at Princeton University solved the mystery of the functional impact these mutations can have in people who have autism.
The study was published on May 27 in the journal Nature Genetics. The researchers analyzed samples of genomes coming from 1,790 different families that have one child on the autistic spectrum. Approximately 120,000 mutations were sorted to reveal the ones responsible for autism. The results do not point to the exact cause of the disorder, but scientists discovered a series of possible contributors.
Older research was based on identifying mutations in genes, as scientists believed that since they basically are instructions for making proteins for our bodies, they could be the only ones responsible. However, the possibility of mutations that change the way genes are regulated has not been taken into consideration until now. This research is the first bit of evidence that mutated regulatory DNA can lead to complex diseases.
Scientists Found New Type Of Genetic Mutations That Can Cause Autism
Olga Troyanskaya, the senior author of the study, said that the same thought process could be used to analyze other diseases as well, especially neurological disorders, cancer, heart disease, and others. “This transforms the way we need to think about the possible causes of those diseases,” she added.
During the research, the time used a system based on an artificial intelligence technique that involves an algorithm identifying relevant bits of DNA and determining if they play a role in protein interactions known to affect the regulation of genes. After analyzing the entire genome, the algorithm reveals the DNA sequences with a risk of causing mutations.
The scientists involved in the study said that the system could show you all of the possibilities and gives you the chance to rank or prioritize them based on their risks. The 1,790 families that were analyzed showed that 30% of autistic people had a previously identified genetic cause. Researchers think that the newly-discovered mutations might increase the percentage.