Missense mutations occur when a pair of DNA bases of one gene changes, and this change leads to the replacement of one amino acid with another in the protein of the gene. Mutations that disrupt the function of proteins are widely recognized as a source of risk for developing developmental disorders such as intellectual disability, congenital heart disease and ASD.

In a new study published in Nature Genetics, a comprehensive computational approach was developed to investigate the functional impact of missense mutations. The team, which includes Cuthhern Roder of the Carnegie Mellon University, tested this approach by analyzing the genetic structures of people with ASD who had mutations, as well as their siblings who did not have mutations. They found that the program successfully identified and identified priority missense mutations that contribute to the risk of a disease or disorder.

"Identification of genetic mutations that increase the likelihood of the disease is a serious problem for progress in personalized medicine. Using a machine learning model that predicts which mutations can disrupt the human interactive network, we have shown that these mutations are much more likely to occur in autistic sufferers than their brothers and sisters, "says Roder, professor of statistics and life sciences, in College of Humanities and Social Sciences Dietrich. "This result extends to several other mental disorders, suggesting that our conclusion may have an even wider application."

Materials provided by Carnegie Mellon University.

Journal Reference:

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu. The interacting perturbation structure prioritizes damaging mutant mutations for developmental disorders. Nature Genetics, 2018; DOI: 10.1038 / s41588-018-0130-z

Source: www.sciencedaily.com