Featured Research

from universities, journals, and other organizations

Researchers identify gene tied to extremely rare disorder that causes inflammation and loss of fat

Date:
December 1, 2010
Source:
UT Southwestern Medical Center
Summary:
Researchers have identified a gene responsible for a rare disease that results in severe joint stiffness, muscle loss, anemia and panniculitis-induced lipodystrophy, or JMP syndrome.

UT Southwestern Medical Center researchers have identified a gene responsible for a rare disease that results in severe joint stiffness, muscle loss, anemia and panniculitis-induced lipodystrophy, or JMP syndrome.

The researchers identified a blip in the gene -- proteasome subunit, beta-type, 8 (PSMB8) -- in three patients from two distinct families who were suffering from progressive loss of fat and muscles as well as joint contractures that particularly affected the hands and feet. The fat loss was due to recurrent inflammatory lesions under the skin called panniculitis. Lipodystrophies are disorders characterized by the selective loss of fat tissues and complications of insulin resistance.

Dr. Abhimanyu Garg, chief of nutrition and metabolic diseases and senior author of the study appearing online and in the Dec. 2 issue of The American Journal of Human Genetics, said that in addition to providing a clue to the cause of JMP syndrome, the findings also tell researchers more about the role proteasomes play in an individual's immune response. Although researchers identified proteasomes many years ago, their precise contribution to immunity in humans has eluded scientists.

"Our findings show that if this gene is mutated, it can lead to the development of an auto-inflammatory syndrome," Dr. Garg said. "How the mutation triggers lipodystrophy is not entirely clear, but this does suggest new therapeutic targets for individuals with the condition."

The researchers used gene mapping technology on DNA samples of the study participants and their family members to find the PSMB8 gene. Two of the patients hailed from Monterrey, Mexico, and the third from Portugal.

They found that the mutation reduces activity of the PSMB8 enzyme within the immune cells and affects normal processing of antigens, resulting in inflammation.

The next step, Dr. Garg said, is to determine the best type of therapy and whether it is possible to prevent the disease or lessen the severity of some of its symptoms.

"This is a good start," Dr. Garg said. "There's more to be learned from the patients about the function of this immune-response gene."

Other UT Southwestern researchers involved in the study include Dr. Anil Agarwal, associate professor of internal medicine; Dr. Chao Xing, assistant professor of clinical sciences; Dr. George DeMartino, professor of physiology; and Dr. Dario Mizrachi, instructor of internal medicine. Researchers from the Universidad Autonoma de Nuevo Leon in Mexico and the Hospital de Santa Maria in Portugal also contributed to the study.

The National Institutes of Health supported the work.


Story Source:

The above story is based on materials provided by UT Southwestern Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

UT Southwestern Medical Center. "Researchers identify gene tied to extremely rare disorder that causes inflammation and loss of fat." ScienceDaily. ScienceDaily, 1 December 2010. <www.sciencedaily.com/releases/2010/12/101201124349.htm>.
UT Southwestern Medical Center. (2010, December 1). Researchers identify gene tied to extremely rare disorder that causes inflammation and loss of fat. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2010/12/101201124349.htm
UT Southwestern Medical Center. "Researchers identify gene tied to extremely rare disorder that causes inflammation and loss of fat." ScienceDaily. www.sciencedaily.com/releases/2010/12/101201124349.htm (accessed September 1, 2014).

Share This




More Health & Medicine News

Monday, September 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Get on Your Bike! London Cycling Popularity Soars Despite Danger

Get on Your Bike! London Cycling Popularity Soars Despite Danger

AFP (Sep. 1, 2014) Wedged between buses, lorries and cars, cycling in London isn't for the faint hearted. Nevertheless the number of people choosing to bike in the British capital has doubled over the past 15 years. Duration: 02:27 Video provided by AFP
Powered by NewsLook.com
We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com
California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

Reuters - US Online Video (Aug. 30, 2014) California lawmakers pass a bill requiring universities to adopt "affirmative consent" language in their definitions of consensual sex, part of a nationwide drive to curb sexual assault on campuses. Linda So reports. Video provided by Reuters
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