(Press-News.org) SALT LAKE CITY— For the first time, a mutation in HIF2α, a specific group of genes known as transcription factors that is involved in red blood cell production and cell metabolism, has been identified in cancer tumor cells.
Researchers from Huntsman Cancer Institute (HCI) at the University of Utah and the National Institutes of Health found the mutation in tumor cells of two patients with the rare cancers paraganglioma/pheochromocytoma and somatostatinoma. The mutation was previously identified in connection with a non-cancerous hereditary condition, but never before in spontaneously arising cancers. The research results appear in the September 6, 2012 issue of the New England Journal of Medicine.
Transcription factors are proteins that bind to specific sequences of DNA to regulate cell functions. Hypoxia-inducible factors (HIFs) are transcription factors that control a wide range of functions connected to the way cells respond to oxygen, including metabolism (the way energy is produced) and the creation of red blood cells. Increased amounts of HIF in cancer cells was found to be responsible for the unique way they generate energy, referred to as the Warburg effect, named for Otto Warburg, a German physiologist who received the 1931 Nobel Prize in Physiology for this research.
"These HIF pathway mutations were first discovered while studying people with a condition called polycythemia that makes the body overproduce red blood cells," said one of the senior authors, Josef Prchal, M.D., professor in the Division of Hematology and Hematologic Malignancies at the University of Utah School of Medicine, an HCI investigator, and an expert on polycythemic disorders who has previously discovered other mutations in other HIF pathway genes.
The findings raise some important questions for future research. "The patients in which we found these mutations have a rare combination of diseases, paraganglioma/pheochromocytoma and polycythemia, yet they shared similar mutations," said Prchal. "Learning whether HIF pathway mutations are present in other cancers could increase understanding of the mechanisms of cancer cell metabolism and offer a possible new target for cancer treatment development."
### Felipe Lorenzo, M.D., Ph.D., postdoctoral fellow in the University of Utah Division of Hematology and Hematologic Malignancies, collaborated on this article. Other co-authors are associated with various entities of the National Institutes of Health. The research was supported, in part, by the Intramural Research Program of the National Institutes of Health, the National Institute of Child Health and Human Development, and the National Institute of Neurological Disorders and Stroke and VAH Merit Award to Dr. Prchal. The National Institutes of Health support Huntsman Cancer Institute through P30 CA042014.
The mission of Huntsman Cancer Institute (HCI) at the University of Utah is to understand cancer from its beginnings, to use that knowledge in the creation and improvement of cancer treatments, to relieve the suffering of cancer patients, and to provide education about cancer risk, prevention, and care. HCI is a National Cancer Institute-Designated Cancer Center, which means that it meets the highest national standards for cancer care and research and receives support for its scientific endeavors. HCI is also a member of the National Comprehensive Cancer Network (NCCN), a not-for-profit alliance of the world's leading cancer centers that is dedicated to improving the quality and effectiveness of care provided to patients with cancer. For more information about HCI, please visit www.huntsmancancer.org.
Fraudsters beware: the more your social networks connect you and your accomplices to the crime, the easier it will be to shake you from the tree.
The Steiner tree, that is.
In an article recently published in the journal Computer Fraud and Security, University of Alberta researcher Ray Patterson and colleagues from the University of Connecticut and University of California – Merced outlined the connection linking fraud cases and the algorithm designed by Swiss mathematician Jakob Steiner. Fraud is a problem that costs Canadians billions of dollars annually and countless ...
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The discovery suggests that treatments targeting these two specific microRNAs ...
HONOLULU, HI - University of Hawai'i Cancer Center researchers have discovered germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and atypical melanocytic tumors. Germline mutations are hereditary gene defects that are present in every cell.
The study investigated two unrelated families with BAP1 defects and found an increase in the occurrence of mole-like melanocytic tumors that are non-cancerous flat or slightly elevated and pigmented skin lesions. These benign skin lesions ...
TEMPE, Ariz. – Diarrheal disease is the second leading cause of death in children under five years old — killing as many as 1.5 million children worldwide every year. These startling statistics from the World Health Organization (2009) point to the reason why a group of undergraduate students from Arizona State University is working to develop a low-cost biosensor — a simple device that would detect contaminated drinking water.
An interdisciplinary team of nine students is participating in the 2012 International Genetically Engineered Machine (iGEM) competition — a prestigious ...
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"Extremes are more intuitively novel, entertaining, and colorful, representing another common news value," ...
Radiation therapy is one of the most widely used cancer treatments, but it often damages normal tissue and can lead to debilitating conditions. A class of drugs known as mammalian target of rapamycin (mTOR) inhibitors can prevent radiation-induced tissue damage in mice by protecting normal stem cells that are crucial for tissue repair, according to a preclinical study published by Cell Press in the September issue of the journal Cell Stem Cell.
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Researchers at the Walter and Eliza Hall Institute have discovered that a pair of molecules work together to kill so-called 'self-reactive' immune cells that are programmed to attack the body's own organs. The finding is helping to explain how autoimmune diseases develop.
Dr Daniel Gray and colleagues from the institute's Molecular Genetics of Cancer division and the University of Ballarat discovered that the absence of two related proteins, called Puma and Bim, led to self-reactive immune cells accumulating and attacking many different body organs, causing illness. The ...
6 September 2012: Two very different galaxies feature in this family portrait taken by the NASA/ESA Hubble Space Telescope, together forming a peculiar galaxy pair called Arp 116. The image shows the dramatic differences in size, structure and colour between spiral and elliptical galaxies.
Arp 116 is composed of a giant elliptical galaxy known as Messier 60, and a much smaller spiral galaxy, NGC 4647.
Being a typical elliptical galaxy, Messier 60 on its own may not be very exciting to look at, but together with its adjacent spiral friend, the pair becomes a rather interesting ...
PHILADELPHIA — Newly discovered molecular differences between small cell lung cancer and nonsmall cell lung cancer have revealed PARP1 and EZH2 as potential therapeutic targets for patients with small cell lung cancer, according to the results of a study published in Cancer Discovery, a journal of the American Association for Cancer Research.
Currently, small cell lung cancer accounts for about 15 percent of lung cancer diagnoses in the United States. Patients with the disease will initially respond to chemotherapy, but almost all will have disease recurrence within a ...