Creating a free account will enable you to subscribe to our daily and weekly email newsletters, as well as customize your reading experience to show only the categories most relevant to you.
Signing up only take a few minutes, so why not give it a try and see what you've been missing out on.
Having recently discovered a set of powerful gene regulators that control cell identity in a few mouse and human cell types, Whitehead Institute scientists are now showing that these regulators - which they named "super-enhancers" - act across a vast array of human cell types and are enriched in mutated regions of the genome that are closely associated with a broad spectrum of diseases.
The findings, published online by the journal Cell, suggest that these super-enhancers, first described in Cell several months ago by Whitehead Member Richard Young, could ultimately play important roles in disease diagnostics and therapeutics.
In April, Young reported that while the total number of genetic control elements is likely in the millions, only a few hundred super-enhancers regulate the key genes that give each cell its unique properties and functions. At the time, Young hinted that the discovery, which was based on work primarily in embryonic stem cells, would help to solve the regulatory circuitry of all human cells. This latest research represents a significant step toward that goal, producing a catalog of super-enhancers in nearly 100 human cell and tissue types.
"We've gone from a few cells to a broad swath of human cell types to create this resource and make it available to the biomedical research community," says Young, who is also a professor of biology at MIT.
Young notes that the striking finding of the new study is that beyond their roles in control of healthy cells, super-enhancers are involved in regulating the function - and dysfunction - of diseased cells.
"We were surprised that for so many different diseases, mutations associated with the disease occur in super-enhancers" says postdoctoral scientist Brian Abraham, an author of the study. Indeed, he and other researchers in Young's lab found in disease-relevant cell types genetic mutations associated with Alzheimer's disease, diabetes, and many autoimmune diseases in genomic regions under the control of specific super-enhancers.
The researchers also found super-enhancers operating in particularly insidious fashion across a broad spectrum of cancers, observing cancer cells assembling their own super-enhancers to overproduce malevolent oncogenes that drive such cancer hallmarks as hyperproliferation, invasion, and metastasis. Young believes that identifying, mapping, and disrupting super-enhancers could alter the way cancers are managed in the clinic.
"When we focus on personalized medicine for cancer patients, super-enhancers could serve as useful biomarkers for tracking and understanding the evolution of a person's cancer," says Young. "Ultimately, super-enhancers may well become important targets for therapeutic intervention."
This work was supported by grants from the National Institutes of Health (grants HG002668, CA109901, and CA146445).
Richard Young's primary affiliation is with Whitehead Institute for Biomedical Research, where his laboratory is located and all his research is conducted. He is also a professor of biology at Massachusetts Institute of Technology.
"Super-enhancers in the control of cell identity and disease". Denes Hnisz, Brian J. Abraham, Tong Ihn Lee, Ashley Lau, Violaine Saint-André, Alla A. Sigova, Heather A. Hoke, Richard A. Young. Cell, 10 October 2013 10.1016/j.cell.2013.09.053
Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our Genetics category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
n.p. "Disease diagnostics and therapeutics - a potential role for super-enhancers." Medical News Today. MediLexicon, Intl., 14 Oct. 2013. Web.
13 Dec. 2013. <http://www.medicalnewstoday.com/releases/267351>
n.p. (2013, October 14). "Disease diagnostics and therapeutics - a potential role for super-enhancers." Medical News Today. Retrieved from
Please note: If no author information is provided, the source is cited instead.
If you write about specific medications, operations, or procedures please do not name healthcare professionals by name.
For any corrections of factual information, or to contact the our editorial team, please use our feedback form. Please send any medical news or health news press releases to:
Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.
This page was printed from: http://www.medicalnewstoday.com/releases/267351.php
Visit www.medicalnewstoday.com for medical news and health news headlines posted throughout the day, every day.
© 2004-2013 All rights reserved. MNT (logo) is the registered trade mark of MediLexicon International Limited.