Silent Mutations Could Have Unexpectedly Far-Reaching Effects that May Impact Health

Posted onSeptember 26th, 2024byDr. Monica M. Bertagnolli

Genetic mutations affect nearly all human diseases. Some genetic disorders such ascystic fibrosisare caused by mutations in a single gene that a person inherits from their parents. Other diseases can be caused by changes in multiple genes or from a combination of gene mutations and environmental factors. We still have a lot to learn about the complex ways that variations in our genes affect health and disease.

Researchers investigating genetic disorders have primarily studied mutations that cause our cells to alter the makeup of proteins, like the most common mutations that cause cystic fibrosis. Less research has been done on alterations called synonymous mutations, which have been called silent because they dont alter the makeup of proteins, leading scientists to long assume that these kinds of mutations dont produce any noticeable differences in our biology or health. However, recent research has shown that synonymous mutations can lead to significant changes in a cells ability to survive and grow. A new NIH-supported study reported inProceedings of the National Academy of Sciences sheds additional light on the impact of synonymous mutations and their effect on the way proteins are made.