Featured Research

from universities, journals, and other organizations

Cause of Demetz Syndrome in Tyrolean Grey cattle discovered

Date:
May 19, 2011
Source:
Veterinärmedizinische Universität Wien
Summary:
Humans and animals have highly sophisticated nervous systems, which are unfortunately often prone to illness and disease. A plethora of factors may be responsible for problems but there is increasing evidence of genetic causes for a number of conditions. Species or races with relatively small populations are known to be particularly prone to genetic problems. An example is the Tyrolean Grey, a cattle breed represented by only about 5,000 registered cows and known to be susceptible to a particular neurological disorder. Scientists have now uncovered the genetic basis for the condition.

Humans and animals have highly sophisticated nervous systems, which are unfortunately often prone to illness and disease. A plethora of factors may be responsible for problems but there is increasing evidence of genetic causes for a number of conditions. Species or races with relatively small populations are known to be particularly prone to genetic problems. An example is the Tyrolean Grey, a cattle breed represented by only about 5,000 registered cows and known to be susceptible to a particular neurological disorder.

Related Articles


An international consortium of scientists involving a group at the University of Veterinary Medicine, Vienna has now uncovered the genetic basis for the condition. Although gene sequencing suggested that the mutation in question should have no effect, the researchers found that it leads to the production of a shortened and non-functional protein. The results are published in the online journal PLoS One.

Modern cattle breeding relies to a large extent on artificial insemination and thus a large number of cattle can often be traced to one or a few bulls. This is part of the reason why cattle are so prone to genetic problems but it also offers hope for their treatment: targeted breeding programmes should be able to eliminate disease-causing mutations in a very short time. With this goal in mind, a consortium of scientists from the University of Bern, Switzerland and the Universities of Veterinary Medicine and of Natural Resources and Applied Life Sciences, Vienna investigated possible causes for the so-called Demetz Syndrome, a neurological disorder of Tyrolean Grey cattle first diagnosed by Florian Demetz in 2003 in which affected animals show lameness and ataxia, a lack of muscle coordination.

Breeding records strongly suggested that the disease had a genetic origin and initial genetic studies enabled the scientists to localize the gene mutation responsible to a relatively small region of chromosome 16 that houses the so-called MFN2 gene, known to be involved in the fusion of mitochondria. A form of the human Charcot-Marie-Tooth disease is known to be associated with mutations in the human MFN2 gene, thus confirming the importance of the gene in neurological development. But when they sequenced the mutated cattle MFN2 gene the researchers came up with a surprise: the mutation was predicted to have absolutely no effect on the protein encoded by the gene. So-called "silent mutations" are widespread in the genomes of many species and as their name implies they normally have no consequence. So what is happening in Demetz Syndrome?

Uschi Reichart, a post-doc in the group of Mathias Müller at the University of Veterinary Medicine, Vienna, addressed the problem by examining the RNA molecules produced from the wild-type and the mutated genes. In addition to the normal RNA molecule, she found that diseased calves make a second, much longer RNA from the same gene. The variant RNA contains a sequence that is normally excised ("spliced") out of the RNA transcript. This sequence includes a "stop codon" that causes protein production to cease and as a consequence the longer RNA actually gives rise to a protein that is slightly shorter than the normal one -- and is non-functional as a result. In other words, a single-point mutation that would be expected to have no effect on the gene product is in fact directly responsible for an incorrect processing of the RNA intermediate and thus for the production of an incorrect protein.

As Reichart says, "Scientists often rely on sequence information to identify mutations. But it is easy to miss things if you don't also perform traditional expression studies and look at the RNA and proteins that are produced." A defective protein is clearly responsible for causing Demetz Syndrome in Tyrolean Grey cattle. It should thus be possible to screen bulls for the presence of the corresponding genetic mutation and to eliminate the disease from the population.


Story Source:

The above story is based on materials provided by Veterinärmedizinische Universität Wien. Note: Materials may be edited for content and length.


Journal Reference:

  1. Cord Drögemüller, Ursula Reichart, Torsten Seuberlich, Anna Oevermann, Martin Baumgartner, Kathrin Kühni Boghenbor, Michael H. Stoffel, Claudia Syring, Mireille Meylan, Simone Müller, Mathias Müller, Birgit Gredler, Johann Sölkner, Tosso Leeb. An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle. PLoS ONE, 2011; 6 (4): e18931 DOI: 10.1371/journal.pone.0018931

Cite This Page:

Veterinärmedizinische Universität Wien. "Cause of Demetz Syndrome in Tyrolean Grey cattle discovered." ScienceDaily. ScienceDaily, 19 May 2011. <www.sciencedaily.com/releases/2011/05/110519090223.htm>.
Veterinärmedizinische Universität Wien. (2011, May 19). Cause of Demetz Syndrome in Tyrolean Grey cattle discovered. ScienceDaily. Retrieved November 29, 2014 from www.sciencedaily.com/releases/2011/05/110519090223.htm
Veterinärmedizinische Universität Wien. "Cause of Demetz Syndrome in Tyrolean Grey cattle discovered." ScienceDaily. www.sciencedaily.com/releases/2011/05/110519090223.htm (accessed November 29, 2014).

Share This


More From ScienceDaily



More Plants & Animals News

Saturday, November 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Research on Bats Could Help Develop Drugs Against Ebola

Research on Bats Could Help Develop Drugs Against Ebola

AFP (Nov. 28, 2014) — In Africa's only biosafety level 4 laboratory, scientists have been carrying out experiments on bats to understand how virus like Ebola are being transmitted, and how some of them resist to it. Duration: 01:18 Video provided by AFP
Powered by NewsLook.com
New Dinosaur Species Found in Museum Collection

New Dinosaur Species Found in Museum Collection

Reuters - Innovations Video Online (Nov. 27, 2014) — A British palaeontologist has discovered a new species of dinosaur while studying fossils in a Canadian museum. Pentaceratops aquilonius was related to Triceratops and lived at the end of the Cretaceous Period, around 75 million years ago. Jim Drury has more. Video provided by Reuters
Powered by NewsLook.com
Tryptophan Isn't Making You Sleepy On Thanksgiving

Tryptophan Isn't Making You Sleepy On Thanksgiving

Newsy (Nov. 27, 2014) — Tryptophan, a chemical found naturally in turkey meat, gets blamed for sleepiness after Thanksgiving meals. But science points to other culprits. Video provided by Newsy
Powered by NewsLook.com
Classic Hollywood Memorabilia Goes Under the Hammer

Classic Hollywood Memorabilia Goes Under the Hammer

Reuters - Entertainment Video Online (Nov. 26, 2014) — The iconic piano from "Casablanca" and the Cowardly Lion suit from "The Wizard of Oz" fetch millions at auction. Sara Hemrajani reports. Video provided by Reuters
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

 

Plants & Animals

Earth & Climate

Fossils & Ruins

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