Featured Research

from universities, journals, and other organizations

Gene mutation immortalizes malignant melanoma

Date:
January 25, 2013
Source:
Helmholtz Association of German Research Centres
Summary:
Scientists have discovered a previously unknown genetic cause of malignant melanoma: A gene mutation that leads to overactive telomerase, the so-called 'immortality enzyme.'

Scientists from the German Cancer Research Center and from University Duisburg-Essen have discovered a previously unknown genetic cause of malignant melanoma: a gene mutation that leads to overactive telomerase, the so-called 'immortality enzyme'. The mutated gene region found in familial melanoma is also altered in up to 74 percent of non-inherited cases of melanoma -- here as a consequence of sun exposure. Substances inhibiting telomerase may be a novel therapeutic approach for treating malignant melanoma. The researchers have published their findings in Science.

Related Articles


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.


Story Source:

The above story is based on materials provided by Helmholtz Association of German Research Centres. Note: Materials may be edited for content and length.


Journal Reference:

  1. S. Horn, A. Figl, P. S. Rachakonda, C. Fischer, A. Sucker, A. Gast, S. Kadel, I. Moll, E. Nagore, K. Hemminki, D. Schadendorf, R. Kumar. TERT Promoter Mutations in Familial and Sporadic Melanoma. Science, 2013; DOI: 10.1126/science.1230062

Cite This Page:

Helmholtz Association of German Research Centres. "Gene mutation immortalizes malignant melanoma." ScienceDaily. ScienceDaily, 25 January 2013. <www.sciencedaily.com/releases/2013/01/130125104200.htm>.
Helmholtz Association of German Research Centres. (2013, January 25). Gene mutation immortalizes malignant melanoma. ScienceDaily. Retrieved April 18, 2015 from www.sciencedaily.com/releases/2013/01/130125104200.htm
Helmholtz Association of German Research Centres. "Gene mutation immortalizes malignant melanoma." ScienceDaily. www.sciencedaily.com/releases/2013/01/130125104200.htm (accessed April 18, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, April 18, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Our Love Of Puppy Dog Eyes Explained By Science

Our Love Of Puppy Dog Eyes Explained By Science

Newsy (Apr. 17, 2015) Researchers found a spike in oxytocin occurs in both humans and dogs when they gaze into each other&apos;s eyes. Video provided by Newsy
Powered by NewsLook.com
Scientists Find Link Between Gestational Diabetes And Autism

Scientists Find Link Between Gestational Diabetes And Autism

Newsy (Apr. 17, 2015) Researchers who analyzed data from over 300,000 kids and their mothers say they&apos;ve found a link between gestational diabetes and autism. Video provided by Newsy
Powered by NewsLook.com
Video Messages Help Reassure Dementia Patients

Video Messages Help Reassure Dementia Patients

AP (Apr. 17, 2015) Family members are prerecording messages as part of a unique pilot program at the Hebrew Home in New York. The videos are trying to help victims of Alzheimer&apos;s disease and other forms of dementia break through the morning fog of forgetfulness. (April 17) Video provided by AP
Powered by NewsLook.com
Boy or Girl? Intersex Awareness Is on the Rise

Boy or Girl? Intersex Awareness Is on the Rise

AP (Apr. 17, 2015) At least 1 in 5,000 U.S. babies are born each year with intersex conditions _ ambiguous genitals because of genetic glitches or hormone problems. Secrecy and surgery are common. But some doctors and activists are trying to change things. (April 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins