Sequencing Technique Detects Earliest Signs of Genetic Mutations Underlying Cancer, Aging, and More Posted on July 11th, 2024 by Dr. Monica M. Bertagnolli

https://directorsblog.nih.gov/2024/07/11/sequencing-technique-detects-earliest-signs-of-genetic-mutations-underlying-cancer-aging-and-more/ Every day, billions of cells in your body divide, each producing two daughter cells. It’s an essential process for your tissues and organs to renew themselves and remain healthy. To do it, cells must first duplicate their DNA to ensure that each daughter cell gets an accurate copy. In this process, mistakes are inevitably made. Most DNA errors are accurately fixed and do not lead to mutations. But when small errors akin to single-letter typos aren’t corrected, they can become permanent in a cell and multiplied with each subsequent cell division. Even cells that don’t divide, such as neurons in your brain, acquire damage and mutations in their DNA with age. As a result, your tissues contain collections of cells with distinct mutations that accumulate over time. While many of these small errors will show no obvious consequences, others can lead to cancer and other health conditions. Now, a new DNA sequencing technique, described in Nature and developed through research supported by NIH, promises to detect early DNA changes before they become permanent mutations in a cell’s genome. The method, called Hairpin Duplex Enhanced Fidelity Sequencing (HiDEF-seq), could advance our understanding of how and why mutations arise, with potentially important implications for our health. For example, the ability to identify signs that precede mutations may help predict a person’s health risks based on genetic predispositions, environmental exposures, or other factors.