Read Time: 3 minutes
Two researchers from Huntsman Cancer Institute at the (the U) have discovered a gene variant found in high-altitude Andean populations that they believe could be a new biomarker for predicting the severity of diseases and treatment responses for certain types of blood cancer.
, investigator at Huntsman Cancer Institute and assistant professor in the division of Hematology & Hematologic Malignancies at the U, and Josef Prchal, MD, investigator at Huntsman Cancer Institute and the Charles A. Nugent, MD, and Margaret Nugent Endowed Professorship in Medicine/Hematology at the U, presented their findings in the late-breaking abstract sessions at the of the . This is a special honor, given that only the top six late-breaking abstracts are selected for presentation each year.
鈥淭his is the first study to show how genetic traits related to living at high altitudes can affect disease and treatment outcomes,鈥 says Song. 鈥淥ur findings suggest that this could help predict inflammation levels and treatment success.鈥
Prchal and Song鈥檚 research is drawn from a years-long genomic study of the Aymara, an indigenous population living throughout the Andes Mountains of South America.
NFKB1, in many cases, is a gene that activates inflammation. Chronic inflammation can lead to abnormal cell growth and cancer.
Around 90% of the Aymara people have an enriched variant of the gene, according to Song and her team, though it is not unique to their population. It is also present in roughly 30% of Europeans, Hispanics, and Asians.
鈥淭his is the first study to show how genetic traits related to living at high altitudes can affect disease and treatment outcomes.鈥
Song and Prchal recognized that with blood cancers, characterized by increased inflammation, those with the enriched variant of the NFKB1 gene had lower inflammation and better responses to treatment.
This effect of the gene variant could stem from a protective evolutionary measure against blood clots and other inflammatory responses at high altitude.
鈥淭he molecular pathway happened to be discovered through research unrelated to cancer but instead by looking at evolutionary accommodation to high altitude,鈥 says Prchal. 鈥淏ut when we found that this pathway changes inflammation, and that it also happens to be in people who aren鈥檛 Aymara, we could quickly use this knowledge to analyze cells we had from our patients.鈥
Prchal is a renowned expert in the treatment of , , and other 鈥 types of blood cancer that cause the bone marrow to produce too many red blood cells, white blood cells, and platelets, and increase the risk of blood clots. These diseases may transform into more severe blood diseases, such as and leukemia.
鈥淭he molecular pathway happened to be discovered through research unrelated to cancer but instead by looking at evolutionary accommodation to high altitude.鈥
鈥淲hat we found is that 30% of patients with polycythemia vera and essential thrombocythemia are actually better off with the Andean gene variant of NFKB1 than people without,鈥 say Song and Prchal. 鈥淭hey are all more likely to get complete remission with treatment and may have a better course.鈥
Song and Prchal hope that the identification of the enriched variant of the NFKB1 gene could lead to drug therapies for myeloproliferative neoplasms that will replicate the variant鈥檚 capabilities.
The Huntsman Cancer Institute research described in this release is supported by the National Institutes of Health/National Cancer Institute including P30 CA042014, MPN foundation challenge grant, Brown Foundation, and Huntsman Cancer Foundation.
Media Contact
Heather Simonsen
Public Affairs Senior Manager
Huntsman Cancer Institute
801 581-3194
public.affairs@hci.utah.edu
About Huntsman Cancer Institute at the University of Utah
Huntsman Cancer Institute at the is the National Cancer Institute-designated Comprehensive Cancer Center for Utah, Idaho, Montana, Nevada, and Wyoming. With a legacy of innovative cancer research, groundbreaking discoveries, and world-class patient care, we are transforming the way cancer is understood, prevented, diagnosed, treated, and survived. Huntsman Cancer Institute focuses on delivering the most advanced cancer healing and prevention through scientific breakthroughs and cutting-edge technology to advance cancer treatments of the future beyond the standard of care today. We have more than 300 open clinical trials and 250 research teams studying cancer. More genes for inherited cancers have been discovered at Huntsman Cancer Institute than at any other cancer center. Our scientists are world-renowned for understanding how cancer begins and using that knowledge to develop innovative approaches to treat each patient鈥檚 unique disease. Huntsman Cancer Institute was founded by Jon M. and Karen Huntsman.