Featured Research

from universities, journals, and other organizations

International efforts to combat rare metabolic disease

Date:
June 30, 2011
Source:
The Research Council of Norway
Summary:
The rare disorder alpha-mannosidosis can cause serious damage to the nervous system and other organ systems. Researchers believe a treatment may soon be available.

The rare disorder alpha-mannosidosis can cause serious damage to the nervous system and other organ systems. In Tromsø, Norway, researchers have been studying the disease for 20 years -- and a treatment may soon be available.

Alpha-mannosidosis is a rare, inherited metabolic disease causing mental retardation, serious skeletal and muscular abnormalities, and recurrent infections. It affects roughly one in 500 000 people.

The new treatment is based on supplementing alpha-mannosidase, the enzyme which is deficient or does not function properly in people born with the disorder, explains Professor Øivind Nilssen of the Department of Medical Genetics under the Institute of Clinical Medicine at the University of Tromsø.

The researchers in Tromsø were the first to characterise the alpha-mannosidosis gene, and have also supplied the alpha-mannosidase enzyme for therapy trials on animals.

Now Professor Nilssen's group is participating in its third EU project on this topic. If all goes well, clinical trials being held on patients in Denmark could lead to a treatment for the disease in four to five years.

At least 100 different mutations

The researchers in Tromsø have provided an important basis for developing the medication being tested. Collecting and analysing genetic materials from patients throughout Europe, the group has identified more than 100 different pathogenic mutations in over 170 families.

"Through our participation in the EU projects, we have continued working with these materials," says Professor Nilssen. "For example, we have created a database of mutations which contains clinical, demographic, genetic and biochemical data. Information about the patients taking part in the clinical trials is entered as well. By analysing this data we can predict how they will react to the treatment."

Treating the physical and mental symptoms

"We believe the treatment will improve the children's mental development, while in older patients the primary aim is to alleviate the suffering associated with bone disease and immune deficiency," concludes Professor Nilssen.


Story Source:

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


Cite This Page:

The Research Council of Norway. "International efforts to combat rare metabolic disease." ScienceDaily. ScienceDaily, 30 June 2011. <www.sciencedaily.com/releases/2011/06/110630091659.htm>.
The Research Council of Norway. (2011, June 30). International efforts to combat rare metabolic disease. ScienceDaily. Retrieved April 20, 2014 from www.sciencedaily.com/releases/2011/06/110630091659.htm
The Research Council of Norway. "International efforts to combat rare metabolic disease." ScienceDaily. www.sciencedaily.com/releases/2011/06/110630091659.htm (accessed April 20, 2014).

Share This



More Health & Medicine News

Sunday, April 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Nine-Month-Old Baby Can't Open His Mouth

Nine-Month-Old Baby Can't Open His Mouth

Newsy (Apr. 19, 2014) — Nine-month-old Wyatt Scott was born with a rare disorder called congenital trismus, which prevents him from opening his mouth. Video provided by Newsy
Powered by NewsLook.com
'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) — In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) — A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) — The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
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:
from the past week

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