The study, published in the journal Science , provides patients and physicians with a list of new protein mutations that are recommended for testing when diagnosing certain types of cancer and bone marrow disorders.
Our chromosomes, bundles of DNA and proteins that store genetic information, rely on protective caps at their ends called telomeres to prevent damage. These caps are made up of repeating sequences of DNA and proteins. Telomeres naturally shorten with age, but any disruption to their formation or maintenance can reduce DNA stability and increase the risk of aging or disease.
Researchers have uncovered the crucial role of a protein known as replication protein A (RPA) in protecting telomeres. RPA activates the telomerase enzyme, which is responsible for adding repetitive sequences to telomeres and maintaining their length. While scientists have long known about RPA's role in DNA replication and repair, its importance in supporting telomere health in humans was previously uncertain.
Professor C.J. Lim, the research team leader, explains: "There are some patients who suffer from short telomere disorders without a clear explanation, and now we have a possible cause: RPA's failure to stimulate telomerase, which explains some of the mutations associated with short telomere diseases."
Since the study was published, doctors and scientists from around the world have contacted the research team to investigate whether their patients’ illnesses are related to these newly discovered gene mutations that impair RPA function.
The research received support from the U.S. National Institutes of Health, the Office of the Vice President for Research at the University of Wisconsin-Madison, the Wisconsin Alumni Research Foundation, and the university's Department of Biochemistry.
