Navigation Links
Gene mutation immortalizes malignant melanoma
Date:1/25/2013

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.


'/>"/>

Contact: Sibylle Kohlstdt
s.kohlstaedt@dkfz.de
Helmholtz Association of German Research Centres
Source:Eurekalert

Related biology news :

1. Researchers attack HIVs final defenses before drug-resistant mutations emerge
2. EGFR mutation not prognostic factor in non-small cell lung cancer
3. Architecture of rod sensory cilium disrupted by mutation
4. Duke Medicine news -- Genome sequencing of Burkitt Lymphoma reveals unique mutation
5. Mutations in genes that modify DNA packaging result in Facioscapulohumeral Muscular Dystrophy
6. USF researchers identify gene mutation linked to old age hearing loss
7. Chinese scientists discover MVK mutations associated with DSAP
8. Study reveals how common gene mutation affects kids with autism spectrum disorders
9. Most mutations come from dad
10. Populations survive despite many deleterious mutations
11. New method provides fast, accurate, low cost analysis of BRCA gene mutations in breast cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/2/2016)... 2, 2016 Perimeter Surveillance & ... Systems, Physical Infrastructure, Support & Other Service  ... offers comprehensive analysis of the global Border ... generate revenues of $17.98 billion in 2016. ... a leader in software and hardware technologies for advanced ...
(Date:5/24/2016)... 24, 2016 Ampronix facilitates superior patient care by providing unparalleled technology to ... display is the latest premium product recently added to the range of products distributed ... ... ... Imaging- LCD Medical Display- Ampronix News ...
(Date:5/16/2016)... NEW YORK , May 16, 2016   ... authentication solutions, today announced the opening of an IoT ... to strengthen and expand the development of embedded ... provides an unprecedented level of convenience and security with ... to authenticate one,s identity aside from DNA. EyeLock,s platform ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... 24, 2016  Regular discussions on a range of subjects ... the two entities said Poloz. Speaking at a ... , he pointed to the country,s inflation target, which ... "In certain areas ... have common economic goals, why not sit down and address ...
(Date:6/24/2016)... ... ... Researchers at the Universita Politecnica delle Marche in Ancona combed medical journal ... Their findings are the subject of a new article on the Surviving Mesothelioma website. ... the blood, lung fluid or tissue of mesothelioma patients that can help point doctors ...
(Date:6/23/2016)... June 23, 2016   Boston Biomedical , ... compounds designed to target cancer stemness pathways, announced ... granted Orphan Drug Designation from the U.S. Food ... gastric cancer, including gastroesophageal junction (GEJ) cancer. Napabucasin ... to inhibit cancer stemness pathways by targeting STAT3, ...
(Date:6/23/2016)... 2016 Houston Methodist Willowbrook Hospital has ... Association to serve as their official health care ... Willowbrook will provide sponsorship support, athletic training services, ... coaches, volunteers, athletes and families. "We ... Association and to bring Houston Methodist quality services ...
Breaking Biology Technology: