PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Gene mutation immortalizes malignant melanoma

2013-01-25
(Press-News.org) About ten percent of all cases of malignant melanoma are familial cases. The genome of affected families tells scientists a lot about how the disease develops. Prof. Dr. Rajiv Kumar of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) together with Prof. Dr. Dirk Schadendorf from Essen University Hospital studied a family where 14 family members were affected by malignant melanoma.

The scientists analyzed the genomes of family members and found an identical mutation in the gene for telomerase, an enzyme often called 'immortality enzyme', in all persons studied. Telomerase protects the ends of chromosomes from being lost in the process of cell division and, thus, prevents that the cell ages and dies. The inherited gene mutation leads to the formation of a binding site for protein factors in the controlling region of the telomerase gene, causing it to become overactive. As a result, mutated cells overproduce telomerase and hence become virtually immortal.

This spectacular finding of the family analysis prompted the scientists to also look for mutated telomerase genes in non-inherited (sporadic) melanoma, which is much more common than the familial variant. In most of the tissue samples of melanomas of all stages they found alterations in the telomerase gene switch, which the researchers clearly identified as typical consequences of sun exposure. Even though these mutations were not identical to those found in the melanoma family, they had the same effect: overactive telomerase.

"We don't believe that the telomerase gene in melanoma is mutated by pure chance, but that it is a so-called driver mutation that drives carcinogenesis," says Rajiv Kumar. This is also confirmed by the surprising incidence of this alteration: The telomerase gene is the most frequently mutated gene in melanoma. "This is something we hadn't expected, because malignant melanoma has been genetically analyzed thoroughly. But this mutation always seems to have been overlooked," says Kumar.

Rajiv Kumar, Dirk Schadendorf and their teams are hoping that the alterations in the telomerase gene may be a starting point for developing novel treatment methods for malignant melanoma. A very recent development targeting a specific alteration in the B-RAF gene, which characterizes about half of all melanomas, has shown that this is possible. The mutation gave rise to the development of a targeted drug that can arrest cancer growth. "Substances inhibiting telomerase have already been developed and some of them have even been tested in phase III clinical trials," said Rajiv Kumar. Inhibition of the immortality enzyme might also be able to arrest growth in melanoma.

### Susanne Horn, Adina Figl, P. Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki, Dirk Schadendorf and Rajiv Kumar: TERT Promoter Mutations in Familial and Sporadic Melanoma. Science 2013, DOI: 10.1126/science.1230062

The German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) with its more than 2,500 employees is the largest biomedical research institute in Germany. At DKFZ, more than 1,000 scientists investigate how cancer develops, identify cancer risk factors and endeavor to find new strategies to prevent people from getting cancer. They develop novel approaches to make tumor diagnosis more precise and treatment of cancer patients more successful. The staff of the Cancer Information Service (KID) offers information about the widespread disease of cancer for patients, their families, and the general public. Jointly with Heidelberg University Hospital, DKFZ has established the National Center for Tumor Diseases (NCT) Heidelberg, where promising approaches from cancer research are translated into the clinic. In the German Consortium for Translational Cancer Research (DKTK), one of six German Centers for Health Research, DKFZ maintains translational centers at seven university partnering sites. Combining excellent university hospitals with high-profile research at a Helmholtz Center is an important contribution to improving the chances of cancer patients. DKFZ is a member of the Helmholtz Association of National Research Centers, with ninety percent of its funding coming from the German Federal Ministry of Education and Research and the remaining ten percent from the State of Baden-Württemberg. END



ELSE PRESS RELEASES FROM THIS DATE:

At least 1 in 5 were infected in flu pandemic, international study suggests

2013-01-25
The highest rates of infection were in children, with 47 per cent of those aged five to 19 showing signs of having caught the virus. Older people were affected less, with only 11 per cent of people aged 65 or older becoming infected. The findings come from an international collaboration led by the World Health Organization and Imperial College London, which analysed data from 19 countries, including the UK, US, China and India, to assess the global impact of the 2009 influenza pandemic. The results, published in the journal Influenza and Other Respiratory Viruses, showed ...

Global warming less extreme than feared?

2013-01-25
Internationally renowned climate researcher Caroline Leck of Stockholm University has evaluated the Norwegian project and is enthusiastic. "These results are truly sensational," says Dr Leck. "If confirmed by other studies, this could have far-reaching impacts on efforts to achieve the political targets for climate." Temperature rise is levelling off After Earth's mean surface temperature climbed sharply through the 1990s, the increase has levelled off nearly completely at its 2000 level. Ocean warming also appears to have stabilised somewhat, despite the fact that ...

Put me in, coach! How trained literacy coaches can improve student reading comprehension

2013-01-25
PITTSBURGH—The language and reading comprehension skills of low-income upper elementary-school students—especially English-language learners—can improve markedly if trained literacy coaches engage teachers in conducting interactive text discussions with students, according to a three-year University of Pittsburgh study. The Pitt researchers report in the journal Learning and Instruction that language and reading comprehension showed measurable improvement for young students when their teachers had worked "at-elbow" with content-specific literacy coaches to foster a more ...

Fighting back against citrus greening

2013-01-25
This press release is available in Spanish. U.S. Department of Agriculture (USDA) scientists in Fort Pierce, Fla. are helping citrus growers and juice processors address the threat posed by Huanglongbing (HLB), a disease that is costing the citrus industry millions of dollars each year. Citrus trees infected with HLB, also called citrus greening, usually die within five to 10 years. Fruit on infected trees often falls to the ground before harvest, and fruit that remains on trees may become misshapen and sometimes only partially ripen. Supervisory horticulturalist ...

Diet, parental behavior, and preschool can boost children's IQ

2013-01-25
Supplementing children's diets with fish oil, enrolling them in quality preschool, and engaging them in interactive reading all turn out to be effective ways to raise a young child's intelligence, according to a new report published in Perspectives on Psychological Science, a journal of the Association for Psychological Science. Using a technique called meta-analysis, a team led by John Protzko, a doctoral student at the NYU Steinhardt School of Culture, Education, and Human Development, combined the findings from existing studies to evaluate the overall effectiveness ...

Black silicon can take efficiency of solar cells to new levels

Black silicon can take efficiency of solar cells to new levels
2013-01-25
This press release is available in German. Scientists at Aalto University, Finland, have demonstrated results that show a huge improvement in the light absorption and the surface passivation on highly absorbing silicon nanostructures. This has been achieved by applying atomic layer coating. The results advance the development of devices that require high sensitivity light response such as high efficiency solar cells. This method provides extremely good surface passivation. Simultaneously, it reduces the reflectance further at all wavelengths. These results are ...

DNA and quantum dots: All that glitters is not gold

DNA and quantum dots: All that glitters is not gold
2013-01-25
A team of researchers at the National Institute of Standards and Technology (NIST) has shown that by bringing gold nanoparticles close to the dots and using a DNA template to control the distances, the intensity of a quantum dot's fluorescence can be predictably increased or decreased.* This breakthrough opens a potential path to using quantum dots as a component in better photodetectors, chemical sensors and nanoscale lasers. Anyone who has tried to tune a radio knows that moving their hands toward or away from the antenna can improve or ruin the reception. Although ...

More than 1 brain behind E=mc2

2013-01-25
Two American physicists outline the role played by Austrian physicist Friedrich Hasenöhrl in establishing the proportionality between the energy (E) of a quantity of matter with its mass (m) in a cavity filled with radiation. In a paper about to be published in EPJ H, Stephen Boughn from Haverford College in Pensylvannia and Tony Rothman from Princeton University in New Jersey argue how Hasenöhrl's work, for which he now receives little credit, may have contributed to the famous equation E=mc2. According to science philosopher Thomas Kuhn, the nature of scientific progress ...

National Cancer Centre Singapore scientists discover p53 mutation hinders cancer treatment response

2013-01-25
Reducing the level of mutant p53 gene increases susceptibility to treatment Scientists from the National Cancer Centre Singapore (NCCS) have discovered the workings of the gene that has been hindering treatment response in cancer patients. This discovery was made after 5 years of studying the mutant form of the p53 gene, the major tumor suppressor in humans, which is generally found mutated in over 50% of all type of human cancers. The dominant-negative (DN) effect of the mutant p53 gene in cancers was found to affect the outcome of cancer treatment modalities. DN effect ...

Evolution inspires more efficient solar cell design

2013-01-25
The sun's energy is virtually limitless, but harnessing its electricity with today's single-crystal silicon solar cells is extremely expensive — 10 times pricier than coal, according to some estimates. Organic solar cells — polymer solar cells that use organic materials to absorb light and convert it into electricity — could be a solution, but current designs suffer because polymers have less-than-optimal electrical properties. Researchers at Northwestern University have now developed a new design for organic solar cells that could lead to more efficient, less expensive ...

LAST 30 PRESS RELEASES:

Multi-resistance in bacteria predicted by AI model

Tinker Tots: A citizen science project to explore ethical dilemmas in embryo selection

Sensing sickness

Cost to build multifamily housing in California more than twice as high as in Texas

Program takes aim at drinking, unsafe sex, and sexual assault on college campuses

Inability to pay for healthcare reaches record high in U.S.

Science ‘storytelling’ urgently needed amid climate and biodiversity crisis

KAIST Develops Retinal Therapy to Restore Lost Vision​

Adipocyte-hepatocyte signaling mechanism uncovered in endoplasmic reticulum stress response

Mammals were adapting from life in the trees to living on the ground before dinosaur-killing asteroid

Low LDL cholesterol levels linked to reduced risk of dementia

Thickening of the eye’s retina associated with greater risk and severity of postoperative delirium in older patients

Almost one in ten people surveyed report having been harmed by the NHS in the last three years

Enhancing light control with complex frequency excitations

New research finds novel drug target for acute myeloid leukemia, bringing hope for cancer patients

New insight into factors associated with a common disease among dogs and humans

Illuminating single atoms for sustainable propylene production

New study finds Rocky Mountain snow contamination

Study examines lactation in critically ill patients

UVA Engineering Dean Jennifer West earns AIMBE’s 2025 Pierre Galletti Award

Doubling down on metasurfaces

New Cedars-Sinai study shows how specialized diet can improve gut disorders

Making moves and hitting the breaks: Owl journeys surprise researchers in western Montana

PKU Scientists simulate the origin and evolution of the North Atlantic Oscillation

ICRAFT breakthrough: Unlocking A20’s dual role in cancer immunotherapy

How VR technology is changing the game for Alzheimer’s disease

A borrowed bacterial gene allowed some marine diatoms to live on a seaweed diet

Balance between two competing nerve proteins deters symptoms of autism in mice

Use of antifungals in agriculture may increase resistance in an infectious yeast

Awareness grows of cancer risk from alcohol consumption, survey finds

[Press-News.org] Gene mutation immortalizes malignant melanoma