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:1/26/2017)... -- Acuity Market Intelligence today released the 2017 "Ten ... characterizes 2017 as a "breakout" year for biometrics ... new understanding of the potential benefits these technologies ... are often perceived as threats to privacy and ... Acuity Market intelligence. "However, taken together these technologies ...
(Date:1/24/2017)... , Jan. 24, 2017 Biopharm ... of the laboratory use of nuclear magnetic resonance ... experienced end-users and profiled current practices, developments, trends ... as well as growth and opportunities. These areas ... suppliers, NMR instruments, needs and innovation requirements, hyphenated ...
(Date:1/23/2017)... , Jan. 23, 2017  The latest mobile ... smartphone prices have dropped dramatically. The quarterly average price ... 2013 to $276 in Q4 2016.  There are now ... price of $116, up from just 28 a year ... According to Maxine Most , Acuity Market ...
Breaking Biology News(10 mins):
(Date:2/28/2017)... , Australien, 28. Februar 2017 /PRNewswire/ ... innovatives Unternehmen, Anbieter und strategischer Partner des ... für den Gesundheitsbereich, das individuelle Gesundheitsversorgung fördert, ... Health Group (ITL) bekannt. ... einheitlichen Plans der neuen Markenidentität und wird ...
(Date:2/28/2017)... (PRWEB) , ... February 28, 2017 , ... FireflySci is ... Starting out in late 2014, FFS had a mission to bring affordable and ... has released another mega product that gives a lab everything needed to get started ...
(Date:2/28/2017)... ... February 28, 2017 , ... Over 8,000 recognized rare diseases afflict an estimated ... webinar on March 7, DrugDev will gather international experts to share challenges and ... , Webinar: Overcoming the Challenges of Rare Disease Clinical Trials, Date: March 7, ...
(Date:2/28/2017)... LONDON and PHILADELPHIA , ... Pharma"), a privately held biopharmaceutical company focusing on debilitating ... treatment options, today announced that the company joins with ... leaders in patient advocacy and support around the world ... to highlight the unique challenges and needs of the ...
Breaking Biology Technology: