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:3/24/2017)... -- The Controller General of Immigration from Maldives Mr. ... have received the prestigious international IAIR Award for the most innovative high ... ... Maldives Immigration Controller ... (small picture on the right) have received the IAIR award for the ...
(Date:3/23/2017)... The report "Gesture Recognition and Touchless Sensing Market by Technology (Touch-based and Touchless), ... published by MarketsandMarkets, the market is expected to be worth USD 18.98 billion ... Continue Reading ... ...      (Logo: ...
(Date:3/22/2017)... , March 21, 2017   Neurotechnology , ... recognition technologies, today announced the release of the ... which provides improved facial recognition using up to ... a single computer. The new version uses deep ... accuracy, and it utilizes a Graphing Processing Unit ...
Breaking Biology News(10 mins):
(Date:5/22/2017)... ... May 22, 2017 , ... Cancer diagnostics and ... booth B2 at the Association for Pathology Informatics Annual Summit at ... to demonstrating its Cancer Diagnostic Cockpit and Consultation Portal, Inspirata will present research ...
(Date:5/21/2017)... ... May 20, 2017 , ... CNSDose ... lengthy trial and error process by finding the right antidepressant faster. CNSDose ... the doctor-patient relationship through a personalized approach to treatment. , A ...
(Date:5/19/2017)... Philadelphia, PA (PRWEB) , ... May 19, 2017 ... ... for its QED Proof-of-Concept Program. Academic researchers with technologies ripe for commercialization, ... Pennsylvania, New Jersey and Delaware, are encouraged to submit proposals. QED, now in ...
(Date:5/18/2017)... ... 18, 2017 , ... Lajollacooks4u has added another option for ... team-building package designed for groups of 10-30 people. Guests can choose their ... such as Blackened Shrimp with Edamame Salad, Pizza Rolls with Pepperoni and Mushrooms ...
Breaking Biology Technology: