Navigation Links
HIF gene mutation found in tumor cells offers new clues about cancer metabolism
Date:9/6/2012

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."


'/>"/>
Contact: Linda Aagard
801-587-7639
University of Utah Health Sciences
Source:Eurekalert

Related medicine news :

1. KRAS gene mutation and amplification status affects sensitivity to antifolate therapy
2. Researchers Find Gene Mutations That May Be a Key to Autism
3. Mayo Clinic breast cancer study finds new type of mutation
4. Scientists make breakthrough in bile duct cancer with discovery of new gene mutations
5. Cancer may require simpler genetic mutations than previously thought
6. Mutations impair childhood growth and development by disrupting organization of chromosome pairs
7. Study sheds new light on role of genetic mutations in colon cancer development
8. Mutations in JAK3 gene identified in subtype of lymphoma provide potential drug target
9. Study finds new gene mutations that lead to enlarged brain size, cancer, autism, epilepsy
10. Gene Mutation Linked to Facial, Skull Abnormalities
11. Mutation in gene IDH a possible target for AML treatment
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/20/2017)... ... September 20, 2017 , ... The Honey Pot ... Vaginas.” The goal is to ignite conversation via social media and word-of-mouth regarding ... brand has declared September “Humans with Vaginas” month, releasing a video celebrating the ...
(Date:9/20/2017)... ... September 20, 2017 , ... Recognising that in today’s busy ... Greeny delivers positive results in just three weeks. Setting the groundwork for a ... Fitting seamlessly into hectic work and family schedules, participants can lose up to ...
(Date:9/20/2017)... ... September 20, 2017 , ... Ron Norman, ... executive marketers this week about the value of senior executives, pointed to a ... happened in business has brought us to the present and will lead us ...
(Date:9/20/2017)... ... ... “Monique”: is the story of Monique, whose mother’s deteriorating physical condition ... Colleen Crispi, has owned four beauty salons and written a book regarding the author’s ... cooking. , “The doctor’s office was only three blocks away, and she could ...
(Date:9/19/2017)... (PRWEB) , ... September 19, 2017 , ... Trusted debt-reduction ... over 175,000 debt accounts, translating to in excess of $835 million in resolved debt ... and other unsecured loans are some of the categories of debt settled by the ...
Breaking Medicine News(10 mins):
(Date:9/9/2017)... WASHINGTON , Sept. 8, 2017 ... Mobile MRI Unit coming to Washington DC ... When: Tuesday, September 12 th – Monday, ... to Washington, D.C. offering free MRI brain scans to the public.Where:  ... – will be parked at 501 K Street NW, Washington, D.C.What:BTF brings ...
(Date:9/7/2017)... , Sept. 7, 2017 Caris Life ... on fulfilling the promise of precision medicine, today ... the benefits of its molecular profiling approach in ... comprehensive genomic profiling plus (CGP+) with Caris Molecular ... tumor on a molecular level, leading to more ...
(Date:9/6/2017)... 2017  Medical professionals are expected to ... treating their patients. Medical simulations offer clinicians ... patients. Simulation provides a safe method for ... procedures, refine techniques and build confidence, without ... technology, such as augmented reality, will now ...
Breaking Medicine Technology: