Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Gene discovery sheds light on causes of rare disease, cancer


National Institute on Aging (NIA) researchers have discovered a new gene, FANCM, which sheds light on an important pathway involved in the repair of damaged DNA. Specifically, mutation in this gene is responsible for one of the forms of Fanconi anemia (FA), a rare genetic disorder that primarily affects children. Like many rare, inherited diseases, understanding this gene’s role in the development of FA provides insights into other medical problems -- in this case, age-related conditions including ovarian and pancreatic cancers, as well as leukemia, the researchers said. Discovery of this gene and its protein provides a potential target for the development of drugs that can prevent or alleviate FA and a variety of cancers.

The finding is scheduled for advanced online publication in Nature Genetics during the week of August 21, 2005.* The report also will be published in the journal’s September 2005 print edition. The NIA is a component of the National Institutes of Health (NIH) at the U.S. Department of Health and Human Services.

"FA is a disease that appears to be the result of a breakdown in vital DNA repair mechanisms," said Weidong Wang, Ph.D., a senior investigator in the NIA’s Laboratory of Genetics, who led the study. "Some scientists theorize that DNA damage, which gradually accumulates as we age, leads to malfunctioning genes and deteriorating tissues and organs as well as increased risk of cancer. We believe that this new gene, FANCM, may be a potent cog in the DNA repair machinery," Wang said. "It is possible that we could learn how to promote the function of DNA repair complexes and thereby prevent the age-related accumulation of DNA damage."

FANCM, like most genes, contains information for making a specific protein. The FANCM protein, part of the molecular machine called the FA core complex, is the only protein within this machine that affects DNA by enzyme activity (enzymes are proteins that encourage biochemical reactions, usually speeding them up). FANCM apparently provides an engine that moves the FA DNA repair machine along the length of DNA. It also is a key component of the complex that is switched "on" or "off" by phosphorylation, or the addition of a phosphate group to a protein, in response to DNA damage. In the future, researchers hope to use the newly-discovered activities of FANCM as targets to select drugs that enhance the FA DNA damage response for intervention in patients.

Fanconi anemia, named for Swiss pediatrician Guido Fanconi, affects about 1 in every 300,000 children. If both parents have the same mutation in the same FA gene, each of their children has a one-in-four chance of inheriting the defective gene from both parents and developing FA or certain types of cancer. The disease leads to bone marrow failure (aplastic anemia) and is associated with birth defects such as missing or extra thumbs and skeletal abnormalities of the hips, spine, or ribs. Many who have FA eventually develop acute myeloid leukemia and are prone to head and neck, gastrointestinal, and other cancers. The first symptoms, such as nose bleeds or easy bruising, usually begin before age 12. In rare instances, however, symptoms do not become apparent until adulthood. This is the third FA gene and protein combination identified in the last 3 years by Wang and his colleagues.

Vicky Cahan | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Generation of a Stable Biradical
22.03.2018 | Julius-Maximilians-Universität Würzburg

nachricht Make way for the mini flying machines
21.03.2018 | American Chemical Society

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Researchers at Fraunhofer monitor re-entry of Chinese space station Tiangong-1

In just a few weeks from now, the Chinese space station Tiangong-1 will re-enter the Earth's atmosphere where it will to a large extent burn up. It is possible that some debris will reach the Earth's surface. Tiangong-1 is orbiting the Earth uncontrolled at a speed of approx. 29,000 km/h.Currently the prognosis relating to the time of impact currently lies within a window of several days. The scientists at Fraunhofer FHR have already been monitoring Tiangong-1 for a number of weeks with their TIRA system, one of the most powerful space observation radars in the world, with a view to supporting the German Space Situational Awareness Center and the ESA with their re-entry forecasts.

Following the loss of radio contact with Tiangong-1 in 2016 and due to the low orbital height, it is now inevitable that the Chinese space station will...

Im Focus: Alliance „OLED Licht Forum“ – Key partner for OLED lighting solutions

Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, provider of research and development services for OLED lighting solutions, announces the founding of the “OLED Licht Forum” and presents latest OLED design and lighting solutions during light+building, from March 18th – 23rd, 2018 in Frankfurt a.M./Germany, at booth no. F91 in Hall 4.0.

They are united in their passion for OLED (organic light emitting diodes) lighting with all of its unique facets and application possibilities. Thus experts in...

Im Focus: Mars' oceans formed early, possibly aided by massive volcanic eruptions

Oceans formed before Tharsis and evolved together, shaping climate history of Mars

A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...

Im Focus: Tiny implants for cells are functional in vivo

For the first time, an interdisciplinary team from the University of Basel has succeeded in integrating artificial organelles into the cells of live zebrafish embryos. This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases, as the authors report in an article published in Nature Communications.

In the cells of higher organisms, organelles such as the nucleus or mitochondria perform a range of complex functions necessary for life. In the networks of...

Im Focus: Locomotion control with photopigments

Researchers from Göttingen University discover additional function of opsins

Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Virtual reality conference comes to Reutlingen

19.03.2018 | Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

Latest News

TRAPPIST-1 planets provide clues to the nature of habitable worlds

21.03.2018 | Physics and Astronomy

The search for dark matter widens

21.03.2018 | Materials Sciences

Natural enemies reduce pesticide use

21.03.2018 | Life Sciences

Science & Research
Overview of more VideoLinks >>>