Researcher Discover Why Some DNA Repair Fails
News Oct 05, 2005
Mayo Clinic researchers have discovered the inner workings of a defective DNA repair process and to explain why certain mutations are not corrected in cells.
The finding is important because genetic instability and accumulations of mutations lead to disease.
This discovery may lead to ways of fixing the process to avoid Huntington's disease and some types of colon cancer.
The Mayo team discovered that under certain conditions, a key protein fails to recognize a specific form of DNA that it needs to begin the repair process by recruiting additional proteins.
They report their findings in a recent issue of Nature Structural and Molecular Biology.
By failing to initiate repair, the defective mechanism may give rise to disabling inherited brain diseases such as Huntington's disease, which causes select brain nerve cells to waste away.
“Hereditary neurodegenerative diseases such as Huntington's disease have no cure and no effective therapy,” says Cynthia McMurray, Ph.D., Mayo Clinic molecular biologist and lead investigator of the study.
“Since the mutation initiates coding for the defective, toxic protein, we feel that it is likely that a successful effort to stop the steps leading to mutation will likely stop the progression of disease.”
Previous work by the International Multiple Sclerosis Genetics Consortium (IMSGC) has identified 233 genetic risk variants. However, these only account for about 20% of overall disease risk, with the remaining genetic culprits proving elusive. A new study has tracked down four of these hard-to-find genes.READ MORE