Featured Research

from universities, journals, and other organizations

New genetic syndrome identified that includes allergy, immune deficiency, neurocognitive impairment

Date:
March 4, 2014
Source:
NIH/National Institute of Allergy and Infectious Diseases
Summary:
A new genetic syndrome has been identified, characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive impairment. The researchers observed that the syndrome's diverse symptoms are the result of mutations in a single gene associated with sugar metabolism.

Researchers at the National Institutes of Health (NIH) have identified a new genetic syndrome characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive impairment.

Related Articles


The researchers, led by scientists at the NIH's National Institute of Allergy and Infectious Diseases (NIAID), observed that the syndrome's diverse symptoms are the result of mutations in a single gene associated with sugar metabolism. They plan to evaluate certain types of sugars as a potential treatment for people with this rare genetic condition in an upcoming clinical trial.

The study, published in the Journal of Allergy and Clinical Immunology, involved eight patients from two families. The families were originally referred to NIH because of severe eczema and recurrent skin and lung infections. By studying this group, the investigators found that the syndrome is caused by mutations in the PGM3 gene that result in the production of underactive PGM3 protein. The NIH team showed that underactive PGM3 leads to lower levels of sugars that are essential for glycosylation, or the attachment of sugars to proteins. Glycosylation is necessary for the normal growth and function of all tissues and organs in the human body. The variety of symptoms in people with PGM3 mutations likely reflects the production of abnormally glycosylated proteins throughout the body. In the laboratory, adding a certain type of sugar to cells from patients with PGM3 mutations boosted cellular levels of the sugars necessary for glycosylation, thus suggesting a potential treatment.

The NIH scientists have yet to unravel how glycosylation defects influence the immune systems of people with PGM3 mutations. However, their findings suggest that other, less severe defects in glycosylation may play a role in more common allergic and immunologic diseases, opening potential new avenues for developing treatments. The study was conducted by scientists from NIAID, the National Human Genome Research Institute and the National Institute of Neurological Disorders and Stroke, all components of NIH, and collaborators. Additional funding was provided by the NIH's National Institute of Diabetes and Digestive and Kidney Diseases, under grant number R01DK55615, and by The Rocket Fund.


Story Source:

The above story is based on materials provided by NIH/National Institute of Allergy and Infectious Diseases. Note: Materials may be edited for content and length.


Journal Reference:

  1. Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen F. Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. Journal of Allergy and Clinical Immunology, 2014; DOI: 10.1016/j.jaci.2014.02.013

Cite This Page:

NIH/National Institute of Allergy and Infectious Diseases. "New genetic syndrome identified that includes allergy, immune deficiency, neurocognitive impairment." ScienceDaily. ScienceDaily, 4 March 2014. <www.sciencedaily.com/releases/2014/03/140304130033.htm>.
NIH/National Institute of Allergy and Infectious Diseases. (2014, March 4). New genetic syndrome identified that includes allergy, immune deficiency, neurocognitive impairment. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2014/03/140304130033.htm
NIH/National Institute of Allergy and Infectious Diseases. "New genetic syndrome identified that includes allergy, immune deficiency, neurocognitive impairment." ScienceDaily. www.sciencedaily.com/releases/2014/03/140304130033.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. 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:

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