Drugs/Therapy

Study Identifies Crucial Step In DNA Repair

By Kamal Nayan | Update Date: Aug 19, 2014 09:35 AM EDT

Researchers have identified a crucial step in DNA repair that might lead to targeted gene therapy for hereditary diseases including "children of the moon" and a common form of colon cancer, according to a new study. 

Disorders such as "children of the moon" are caused by faulty DNA repair systems that also increase the risk for cancer and other conditions. 

Researchers found that when DNA is damaged, a specific protein must be "unbuckled" to allow easy access for the DNA "repair crew." Without this unbuckling, entry to the damaged site is hampered by the compact arrangement of genes and protein in chromosomes called chromatin, the press release added. 

Th study is one of the first to document details of how this repair process takes place in chromatin. 

"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 the 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."

The study has been published in the Proceedings of the National Academy of Sciences.

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