Featured Research

from universities, journals, and other organizations

Cause Of All Hereditary Sensory And Autonomic Neuropathy Type II Cases Has Been Established

Date:
June 10, 2008
Source:
University of Montreal
Summary:
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.

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.

This study of WNK1/HSN2 was realized in the laboratory of Dr. Rouleau by two postdoctoral fellows, Dr. Nathalie Girard and Dr Masoud Shekarabi. Dr. Laurence Faivre from the Hτpital d'enfants, CHU Dijon, also participated to this study.

This work was funded by the Canadian Institutes of Health Research.


Story Source:

The above story is based on materials provided by University of Montreal. Note: Materials may be edited for content and length.


Cite This Page:

University of Montreal. "Cause Of All Hereditary Sensory And Autonomic Neuropathy Type II Cases Has Been Established." ScienceDaily. ScienceDaily, 10 June 2008. <www.sciencedaily.com/releases/2008/06/080610141750.htm>.
University of Montreal. (2008, June 10). Cause Of All Hereditary Sensory And Autonomic Neuropathy Type II Cases Has Been Established. ScienceDaily. Retrieved October 22, 2014 from www.sciencedaily.com/releases/2008/06/080610141750.htm
University of Montreal. "Cause Of All Hereditary Sensory And Autonomic Neuropathy Type II Cases Has Been Established." ScienceDaily. www.sciencedaily.com/releases/2008/06/080610141750.htm (accessed October 22, 2014).

Share This



More Health & Medicine News

Wednesday, October 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Working Mother (Oct. 22, 2014) — Is your child ready? Video provided by Working Mother
Powered by NewsLook.com
U.S. Issues Ebola Travel Restrictions, Are Visa Bans Next?

U.S. Issues Ebola Travel Restrictions, Are Visa Bans Next?

Newsy (Oct. 22, 2014) — Now that the U.S. is restricting travel from West Africa, some are dropping questions about a travel ban and instead asking about visa bans. Video provided by Newsy
Powered by NewsLook.com
US to Track Everyone Coming from Ebola Nations

US to Track Everyone Coming from Ebola Nations

AP (Oct. 22, 2014) — Stepping up their vigilance against Ebola, federal authorities said Wednesday that everyone traveling into the US from Ebola-stricken nations will be monitored for symptoms for 21 days. (Oct. 22) Video provided by AP
Powered by NewsLook.com
Doctors Help Paralysed Man Walk Again, Patient in Disbelief

Doctors Help Paralysed Man Walk Again, Patient in Disbelief

AFP (Oct. 22, 2014) — Polish doctors describe how they helped a paralysed man walk again, with the patient in disbelief at the return of sensation to his legs. Duration: 1:04 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins