Navigation Links
Defect in gene causes 'neuralgic amyotrophy'

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-Barr?Syndrome.< /p>

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.


'"/>

Source:VIB, Flanders Interuniversity Institute of Biotechnology


Related biology news :

1. Cellular Defects in Premature Aging Disease are Reversible
2. Defective Gene Linked to Two Inherited Immune Deficiencies
3. Defective immune system response to smallpox vaccine detailed in new study
4. BRCA1 causes ovarian cancer through indirect, biochemical route
5. Researchers discover molecule that causes secondary stroke
6. NASA study finds snow melt causes large ocean plant blooms
7. Alarm pheromone causes aphids to sprout wings
8. One hit of crystal meth causes birth defects
9. University of Nevada, Reno research team discovers hormone that causes malaria mosquito to urinate
10. Gene discovery sheds light on causes of rare disease, cancer
11. Genomics researchers discover protein deficit that causes drug toxicity
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/11/2017)... 2017 No two people are believed ... New York University Tandon School of Engineering and ... that partial similarities between prints are common enough ... phones and other electronic devices can be more ... lies in the fact that fingerprint-based authentication systems ...
(Date:4/5/2017)... April 4, 2017 KEY FINDINGS ... expand at a CAGR of 25.76% during the forecast ... the primary factor for the growth of the stem ... https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global stem cell ... application, and geography. The stem cell market of the ...
(Date:3/30/2017)... 2017 Trends, opportunities and forecast in this ... technology (fingerprint, AFIS, iris recognition, facial recognition, hand geometry, ... end use industry (government and law enforcement, commercial and ... and others), and by region ( North America ... Asia Pacific , and the Rest of the ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... Personal eye wash is a basic first aid supply for any ... So which eye do you rinse first if a dangerous substance enters both eyes? It’s ... Wash with its unique dual eye piece. , “Whether its dirt and debris, or ...
(Date:10/11/2017)... HILLS, Calif. , Oct. 11, 2017  SkylineDx today ... (ICR) and University of Leeds ... risk-stratify patients with multiple myeloma (MM), in a multi-centric Phase ... University of Leeds is the sponsor ... and ICR will perform the testing services to include high-risk ...
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building and cooking events company, ... today. The bold new look is part of a transformation to increase awareness, ... significant growth period. , It will also expand its service offering from its signature ...
(Date:10/10/2017)... , Oct. 10, 2017 International research firm Parks Associates ... will speak at the TMA 2017 Annual Meeting , October 11 ... in the residential home security market and how smart safety and security ... Parks Associates: ... "The residential security ...
Breaking Biology Technology: