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 CRISPR meets single-cell sequencing in new screening method
19.01.2017 | CeMM Forschungszentrum für Molekulare Medizin der Österreichischen Akademie der Wissenschaften

nachricht Toward a 'smart' patch that automatically delivers insulin when needed
18.01.2017 | American Chemical Society

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

Im Focus: Studying fundamental particles in materials

Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales

Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...

Im Focus: Designing Architecture with Solar Building Envelopes

Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.

As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

The Great Unknown: Risk-Taking Behavior in Adolescents

19.01.2017 | Studies and Analyses

Magnetic moment of a single antiproton determined with greatest precision ever

19.01.2017 | Physics and Astronomy

CRISPR meets single-cell sequencing in new screening method

19.01.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>