Scientists 'Unbuckle' a Crucial Step in DNA Repair

Researchers have discovered a crucial step in DNA repair that could potentially lead to gene therapy for certain hereditary diseases, including a common form of colon cancer and the hereditary health issue "children of the moon."

They found that when DNA is damaged, a specific protein must first be "unbuckled" to allow easy access to repair the cells. Without this, entry to the damaged site can disrupt the compact arrangement of genes and protein in chromosomes known as chromatin.

This is one of the first studies to document details of just how the repair process takes place via the combination of proteins that make up the nucleus.

With the help of yeast and human cells, researchers discovered that there are two steps to the normal TCR repair process and that a protein in the chromatin that's known as H2B is critically involved in the first step.

"Even at a basic fundamental level, I have not lost sight of what you hope this research could ultimately do in terms of human health," said Regents Professor Michael Smerdon, in a press release. "One of the treatments under development is targeted gene therapy," he said. "If a patient has a mutation in a specific gene, it would be a way of giving them a normal copy to try to correct that gene. Though it has been done successfully in some diseases, it is still being investigated in repair deficit cases."

These and future findings help to set the stage for a more in-depth investigation into what could lead to new DNA repair in chromatin and a better understanding of how the whole process works in humans.

More information regarding the findings can be seen via the Proceeding of the National Academy of Science.