Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Defect in gene causes ’Neuralgic Amyotrophy’

26.09.2005


Neuralgic Amyotrophy is a painful disorder of the peripheral nervous system. This heritable disease causes prolonged acute attacks of pain in the shoulder or arm, followed by temporary paralysis. Researchers from the Flanders Interuniversity Institute for Biotechnology (VIB) connected to the University of Antwerp, have uncovered a small piece of the molecular puzzle of this disease by identifying the defects in the gene responsible for this disorder.



Neuralgic Amyotrophy, a painful disorder of the nervous system Hereditary Neuralgic Amyotrophy (HNA) is characterized by repeated attacks of pain in a shoulder, arm, and/or hand, followed by total or partial paralysis of the affected area. The pain and the loss of movement usually disappear within a couple of weeks, but sometimes recovery can take months or even several years. Many HNA patients also have particular facial features, such as eyes that are somewhat closer together, a fold in the upper eyelid that covers the inside corner of the eye, and sometimes a cleft palate.

HNA is a relatively rare disorder: the disease appears in some 200 families worldwide. There is also a non-hereditary form of HNA, called the Parsonage-Turner Syndrome. The clinical picture of this more frequently occurring form - 2 to 4 cases per 100,000 persons - is not distinguishable from that of the heritable form.


The attacks of pain are usually provoked by external factors such as vaccination, infection, operation, and even pregnancy or childbirth. By virtue of their genetic predisposition, carriers of the hereditary form of HNA run greater risk of having an attack. Its re-occurrence, and the fact that the disease is provoked by environmental factors, make this disorder unique in the group of peripheral nervous system disorders. Therefore, HNA is a genetic model for more frequently occurring disorders such as the Parsonage-Turner Syndrome and neurological disorders like Guillain-Barré Syndrome.

Genetic cause of HNA discovered

VIB researchers in Antwerp, under the direction of Vincent Timmerman and Peter De Jonghe, have discovered the genetic defect that underlies HNA. In this effort, the researchers, connected with the University of Antwerp, have been working with colleagues from the universities of Munster (Germany) and Seattle (USA).

The researchers studied several large families and identified the gene responsible for the disorder. They have now shown that HNA is linked to the long arm of chromosome 17, and they have found mutations or alterations in the genetic code of the Septin 9 protein in the patients being studied. HNA is the first mono-genetic disorder caused by a defect in a gene of the Septin family.

The researchers do not yet know exactly how Septin 9 functions in the peripheral nervous system or why mutations give rise to HNA. They do know that other members of the Septin family are involved in the cell division that forms the cytoskeleton and in the development of tumors. The fact that mutations in Septin 9 prevent cell division from occurring properly can perhaps explain why so many HNA patients also have facial abnormalities.

The first step toward treatment?

Today, no effective therapies yet exist to retard or prevent the progress of Neuralgic Amyotrophy. The current treatment is merely supportive. The findings of the researchers in Antwerp are a first essential step in the development of a specific treatment. Now that they know the gene involved, scientists can acquire more insight into the molecular processes of this disease, which may ultimately lead to a therapy.

VIB info | alfa
Further information:
http://www.vib.be

More articles from Life Sciences:

nachricht Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH

nachricht Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute

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

Helmholtz International Fellow Award for Sarah Amalia Teichmann

20.01.2017 | Awards Funding

An innovative high-performance material: biofibers made from green lacewing silk

20.01.2017 | Materials Sciences

Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery

20.01.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>