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:10/13/2017)... TX (PRWEB) , ... October 13, 2017 , ... ... planning agency serving communities in the greater Dallas, Miami, and Raleigh regions, is ... boy fighting to overcome a rare and deadly chromosome abnormality. , After struggling ...
(Date:10/13/2017)... ... ... The American Board of Family Medicine's (ABFM) Board of Directors has selected Warren ... James C. Puffer upon his retirement. Dr. Newton will serve in the position of ... end of 2018. Upon assuming the role of President and CEO on January 1, ...
(Date:10/13/2017)... ... October 13, 2017 , ... Lori R. Somekh, founder of ... ElderCounsel, a national organization of elder law and special needs planning attorneys. “Membership in ... It also provides a forum to network with elder law attorneys nationwide,” said Somekh. ...
(Date:10/13/2017)... New York, NY (PRWEB) , ... October 13, 2017 , ... ... most influential people in business to advocate for action towards gender equality at their ... 18,000 views from around the globe, and reached a social audience of over 3 ...
(Date:10/13/2017)... ... October 13, 2017 , ... Coveros, a ... has been awarded a contract by the Center for Medicare and Medicaid Services ... accelerate the enterprise use of Agile methodologies in a consistent and high value ...
Breaking Medicine News(10 mins):
(Date:10/10/2017)... Oct. 10, 2017   West Pharmaceutical Services, Inc. ... for injectable drug administration, today shared the results of ... for improving the intradermal administration of polio vaccines. The ... Summit in May 2017 by Dr. Ondrej Mach ... World Health Organization (WHO), and recently published in the ...
(Date:10/4/2017)... , Oct. 4, 2017 ... single-use, self-contained, illuminating medical devices, today announced regulatory ... Health Surveillance Agency (or Agência Nacional de Vigilância ... first single-use, cordless surgical retractor with integrated LED ... optimal access, illumination and exposure of a tissue ...
(Date:10/2/2017)... , Oct. 2, 2017 The Rebound mobile ... the struggle to reverse the tide of prescription drug addiction. ... regulating their medicine intake and stepping down their dosage in ... to launch in December 2017; the first 100,000 people to ... more at http://www.rebound-solution.com/ ...
Breaking Medicine Technology: