Navigation Links
The cause of all hereditary sensory and autonomic neuropathy type II cases has been established
Date:6/10/2008

A major discovery that details the existence of a neuronal specific form of the WNK1 gene, henceforth referred to as the WNK1/HSN2 isoform, was recently completed by the research group of Dr. Guy A. Rouleau and published in the scientific journal The Journal of Clinical Investigation. The group led by Dr. Rouleau is part of the University of Montreal Hospital Centre (CHUM), the CHUM Research Centre (CRCHUM) and the Sainte-Justine University Hospital Centre. Dr. Rouleau is also a professor at the University of Montreal. Their recent results will hereafter help to explain all the cases of hereditary neuropathy type II.

Hereditary sensory and autonomic neuropathy type II (HSANII) is a severe and early onset disorder that starts early during childhood. It is characterized by loss of perception to pain, touch and heat attributable to a loss of peripheral sensory nerves in the lower and upper limbs. Unfortunately no therapy is currently available for individuals suffering from hereditary neuropathy type II. In 2004, Dr. Rouleau's team identified the DNA sequence of HSN2 as encoding a novel gene but their more recent investigations have now shown that this sequence is more precisely linked to the expression of a WNK1 isoform that is exclusively detected in the nervous system. Till their discovery, the presence of mutations in WNK1 were only observed in individual suffering from a rare form of hypertension known as Gordon syndrome and no WNK1 isoform were exclusively expressed in the nervous system. The observation of mutations specific to the WNK1/HSN2 isoform in individuals with hereditary sensory and autonomic type II will henceforth allow the generation of animal models of the disease and help to better understand the implication of this gene and its mutations in the sensorial loss mentioned above.

Despite the severity of the symptoms observed in hereditary sensory and autonomic neuropathy type II, this important discovery points to the role of proteins like WNK1/HSN2 that are involved in the perception of pain and henceforth open new avenues for the development of pain treatments. A better understanding of the disease also provide a valuable genetic test to asses the risk or the cause of the disease in individuals at risk or presenting symptoms of it.


'/>"/>

Contact: Nathalie Forgue
nathalie.forgue.chum@ssss.gouv.qc.ca
514-801-5762
University of Montreal
Source:Eurekalert

Related medicine news :

1. Drug for cluster headaches may cause heart problems
2. Study Points to Cause of Vioxx Heart Risk
3. Damp, Moldy Homes May Cause Depression
4. Constipations Many Causes and Cures
5. High Co-Pays Cause Seniors to Go Without Meds
6. 13 percent of women stop taking breast cancer drug because of side effects, U-M study finds
7. Vocal cord dysfunction may be caused by work
8. Study finds drug spending caps cause some seniors to quit taking key medicines
9. Medicare Spending Caps Cause Seniors to Stop Meds
10. Gene Mutations May Cause Rare Neonatal Diabetes
11. Patent Expiries of Proscar and Flomax/Harnal Will Cause a Significant Decline in Near-Term Sales of Benign Prostatic Hyperplasia Drugs
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/20/2017)... ... ... A July 5th article on Reuters Health News discusses a ... body contouring procedure reported experiencing a better quality of life, compared to other patients. ... types of procedures, notes that this report jibes with what they regularly hear from ...
(Date:7/20/2017)... , ... July 20, 2017 , ... “Lucky the Buffalo and Her Adventures”: a collection ... published author, Edward Bieniek. Edward Steven Bieniek Jr. was born in Toledo, Ohio. ... Toledo at com tech. He is married to a brilliant woman with a caring ...
(Date:7/18/2017)... ... 18, 2017 , ... ClinicalTrials.gov and the New Final Rule ... Consider?, **An FDAnews Webinar**, Aug. 2, 2017 — 1:30 p.m. – 3:00 p.m. ... Clinical Trials Registration and Results Information,” is a head-scratcher. After reading and re-reading ...
(Date:7/18/2017)... ... July 18, 2017 , ... An inventor from Anacortes, Wash., knows the ... I have frequent hot flashes, and I suffer from anxiety and vertigo on top ... cool while out and about." INSTA-FAN meets that need. , This device enables a ...
(Date:7/18/2017)... (PRWEB) , ... July 19, 2017 , ... ... Winner for it’s Corporate Social Responsibility Initiative in the prestigious CEO World Awards®. ... leadership, innovation, organizational performance, new products and services, CEO case studies, corporate social ...
Breaking Medicine News(10 mins):
(Date:7/12/2017)... Lilly and Company (NYSE: LLY ) has entered ... patent litigation in the U.S. District Court for the Eastern ... ® (tadalafil) unit dose patent. This patent was previously ... the agreement, Cialis exclusivity is now expected to end at ... dose patent for Cialis is valid and infringed by companies ...
(Date:7/11/2017)... WHIPPANY, N.J. , July 11, 2017  Bayer has ... across eight countries as part of its prestigious Bayer Hemophilia ... Children,s Hospital of Philadelphia and Uniformed ... are among the winners. Grant recipients were announced ... Thrombosis and Hemostasis (ISTH) 2017 Congress, Berlin, Germany ...
(Date:7/11/2017)... , July 11, 2017  Sysmex America, ... urinalysis diagnostic testing equipment as well as middleware ... a way to make quality assurance easier and ... "Sysmex is well known for the innovation that ... Quality Monitor elevates quality assurance processes to a ...
Breaking Medicine Technology: