Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Discovery of new gene for rare nerve disease may help doctors understand more common illnesses

01.02.2006


Saint Louis University neurologist to present findings, now available on-line



A multi-national research team that includes a Saint Louis University neurologist has discovered a gene mutation that causes a rare form of Charcot-Marie-Tooth disease, an inherited progressive nerve disorder. The findings are published in an advance online issue of Nature Genetics.

Researchers have identified some 50 people from three families who live in St. Louis, Wisconsin, Belgium and Bulgaria and have this form of Charcot-Marie Tooth (CMT) disease, says Florian Thomas, M.D., Ph.D., professor of neurology, molecular virology and molecular microbiology and immunology at Saint Louis University School of Medicine, and associate chief of staff and director of the St. Louis VA Medical Center Spinal Cord Injury/Dysfunction Service.


"The discovery of every new gene advances our knowledge of the function of the organ system for which it is relevant and in which it is expressed," Thomas says. "A gene identified in a specific and rare hereditary disease allows for a better understanding of all similar hereditary diseases.

"Not only that, it also allows for a better understanding of how nerves function in general and in any acquired neuropathy. So finding a gene in a family with CMT can help us understand how neuropathy develops in its most common form, for instance, in this country, that seen in people with diabetes."

CMT is the most common inherited neurological disorder, affecting one in 2,500 people and involving the peripheral nerves, which are the structures that connect the brain and spinal cord to our muscles, skin and internal organs.

Half of those who have CMT have one type of the illness due to a mutation in one particular gene, and the other half have one of many other types of the disease. The form of CMT shared by the three families researchers have studied is known as DI-CMT C. While CMT is rare, neuropathies in general are very common, affecting some 10 million people in this country.

"Finding the gene for this disease leads to new diagnostic possibilities for CMT sufferers," Thomas says.

While three families may not seem like very many, it’s enough for scientists to consider offering a commercial test to detect the genetic abnormality to diagnose the type of CMT, Thomas says.

"All of these diseases start out as being found in very few families. But once tests can easily be done, you may find many patients who have the disease," he says.

Thomas, his co-researchers and their affiliated institutions have applied for an international patent for their finding.

"Part of the justification for our international patent application is that identification of the gene can lead to a commercial application -- a gene test."

Thomas, who sees many CMT patients at the St. Louis VA Affairs Medical Center and at Saint Louis University, will present the findings at the April meeting of the American Academy of Neurology in San Diego.

Nancy Solomon | EurekAlert!
Further information:
http://www.slu.edu

More articles from Life Sciences:

nachricht Individual Receptors Caught at Work
19.10.2017 | Julius-Maximilians-Universität Würzburg

nachricht Rapid environmental change makes species more vulnerable to extinction
19.10.2017 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Electrode materials from the microwave oven

19.10.2017 | Materials Sciences

New material for digital memories of the future

19.10.2017 | Materials Sciences

Physics boosts artificial intelligence methods

19.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>