Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutation rate in a gene on the X chromosome holds promise for testing cancer risk

15.09.2005


A new study to detect an elevated rate of mutations in a gene on the X chromosome holds promise for developing a test that could identify individuals at risk for developing cancer. In the study, led by David J. Araten, M.D., Assistant Professor in the Department of Hematology at NYU School of Medicine, the rate of mutations in the gene, called PIG-A, was significantly higher in individuals born with defects in the cellular machinery to repair DNA compared to people without these genetic conditions.



The study is published in the September 15 issue of Cancer Research, a journal of the American Association for Cancer Research.

"The mutation rate is widely believed to be a critical factor in the development of cancer, but it has been extremely difficult to study in human cells," says Dr. Araten. "The ultimate goal of our project is to develop a test for the mutation rate. If successful, we may be able identify individuals at high risk for cancer and find ways to decrease their risk."


In the new study, supported by a grant from the Doris Duke Charitable Foundation, Dr. Araten found that the chance of a mutation in the PIG-A gene each time a cell divides ranges from about 1 in 3 million to about 1 in 300,000 in cells from individuals without a genetic predisposition to cancer.

Among some people with Fanconi anemia and ataxia telangiectasia, conditions involving defects in DNA repair, which predisposes them to cancer, the probability of mutations was close to 1 in 100,000 to 1 in 20,000 per cell division, according to the study.

In order to find the mutations in the PIG-A gene, Dr. Araten took advantage of some unique properties of this gene that can be exploited with an instrument called a flow cytometer, which rapidly sifts through millions of cells to identify the rare mutants. This tool uses a laser to light up antibodies attached to surface proteins on cells; PIG-A mutants lack some of these proteins and do not fluoresce.

In human cells there are two functional copies for most genes and therefore two mutations would be required to identify a rare mutant. Because each mutation is so rare, two mutations would be unlikely to occur in the same cell in a screening test, making detection nearly impossible. However, the PIG-A gene is on the X-chromosome, which is present in only one copy in male cells and there is only one functional copy in female cells. Therefore, cells with only a single mutation in PIG-A can be identified.

"The higher the mutation rate, the more quickly cells will acquire the mutations that cause cancer," says Dr. Araten. "With a test for the mutation rate, we may be able to enroll patients at high risk in screening programs to identify cancers at an early, curable stage. We may also be able to develop medications that decrease the mutation rate."

Pamela McDonnell | EurekAlert!
Further information:
http://www.nyumc.org

More articles from Studies and Analyses:

nachricht The personality factor: How to foster the sharing of research data
06.09.2017 | ZBW – Leibniz-Informationszentrum Wirtschaft

nachricht Europe’s Demographic Future. Where the Regions Are Heading after a Decade of Crises
10.08.2017 | Berlin-Institut für Bevölkerung und Entwicklung

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

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

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

Im Focus: Fast, convenient & standardized: New lab innovation for automated tissue engineering & drug

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems Holding GmbH about commercial use of a multi-well tissue plate for automated and reliable tissue engineering & drug testing.

MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems...

Im Focus: Silencing bacteria

HZI researchers pave the way for new agents that render hospital pathogens mute

Pathogenic bacteria are becoming resistant to common antibiotics to an ever increasing degree. One of the most difficult germs is Pseudomonas aeruginosa, a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Molecular Force Sensors

20.09.2017 | Life Sciences

Producing electricity during flight

20.09.2017 | Power and Electrical Engineering

Tiny lasers from a gallery of whispers

20.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>