Featured Research

from universities, journals, and other organizations

New Gene Shows Way For Autoimmune Disease

Date:
June 13, 2005
Source:
Australian National University
Summary:
A new gene suspected to contribute to autoimmune diseases such as type 1 diabetes and lupus -- a condition in which the body's own immune system attacks organs such as the kidneys and skin -- has been discovered by Australian National University immunologists.

A new gene suspected to contribute to autoimmune diseases such as type 1 diabetes and lupus -- a condition in which the body's own immune system attacks organs such as the kidneys and skin -- has been discovered by Australian National University immunologists.

Related Articles


The researchers found that a mutation in the gene, which they have named Roquin, causes the body's infection fighters -- T-cells -- to attack their own tissue; the realisation opening the way to explore treatments that target the mutation.

Studies of the gene are underway in patients with lupus -- which affects one in 700 women of childbearing age -- and type 1 diabetes to determine whether the same or similar mutations observed in laboratory mice are present in humans.

"This could reveal other abnormalities that underpin autoimmunity, and open up opportunities for developing specific treatments and drugs," said lead researcher Dr Carola Vinuesa, from the John Curtin School of Medical Research (JCSMR) at ANU.

The discovery of Roquin was revealed in the latest edition of Nature magazine.

The researchers mirrored the spontaneous genetic variation that occurs naturally during population growth by introducing random changes in the mouse genome, generating novel models of autoimmune disease. After identifying signs of lupus, they worked backwards to find the altered gene responsible for the condition.

"Before this study, the existence and function of Roquin was not known. However, we now know that in the immune system of mammals, the protein Roquin usually suppresses the activity of forbidden T-cells that bind to parts of the body.

"We found that a single mutation in Roquin causes these T-cells to be abnormally activated, and results in autoimmunity affecting many different parts of the body," Dr Vinuesa said.

Autoimmune disease occurs when the immune system is activated to mount a response against normal tissue in the body, treating it as if it were a germ and damaging and destroying the tissue. For example, in type 1 diabetes, an immune response is mounted against the insulin-secreting cells of the pancreas; in lupus, virtually any part of the body can be attacked by the immune system.

According to Professor Christopher Goodnow, the Head of the Immunogenomics Laboratory at JCSMR and Director of the Australian Phenomics Facility, the discovery hinged upon identifying a single letter change in the DNA code of Roquin.

"It's one very small part of the genome that has proven a very big breakthrough. That single nucleotide change reduces the function of an autoimmunity gene and protein that was hithertoentirely unknown.

According to Professor Goodnow, the characteristics of the Roquin protein suggest that it might repress immune cells by silencing the communication channel between genes and cell functions.

"Roquin stops T-cells from displaying a stimulatory receptor, ICOS, that may cause the cells to attack normal body tissues. Therefore this gene seems critical in protecting us from autoimmunity -- but it only takes the mutation of one letter in that gene to cripple its function and lead to autoimmune disease.

"This finding immediately opens up research into testing the function of Roquin, examining variants that may explain autoimmune disease and working towards discovering drugs that might increase or decrease the activity of the newly-realised process."

The discovery was part of a research program into autoimmune diseases by the John Curtin School of Medical Research, the Australian Phenomics Facility, the ANU Medical School and Oxford University, Professor Goodnow said.

"The specific work described stems from a Wellcome Trust Programme between ANU and Oxford University, and its intersection with a separate Juvenile Diabetes Research Foundation and National Health and Medical Research Council special program in diabetes.

"These represent ambitious efforts to pioneer a new way to connect genes with immune system control mechanisms in diseases such as systemic lupus erythematosus and type 1 diabetes."


Story Source:

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


Cite This Page:

Australian National University. "New Gene Shows Way For Autoimmune Disease." ScienceDaily. ScienceDaily, 13 June 2005. <www.sciencedaily.com/releases/2005/06/050611154440.htm>.
Australian National University. (2005, June 13). New Gene Shows Way For Autoimmune Disease. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2005/06/050611154440.htm
Australian National University. "New Gene Shows Way For Autoimmune Disease." ScienceDaily. www.sciencedaily.com/releases/2005/06/050611154440.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Buzz60 (Dec. 19, 2014) A double-amputee makes history by becoming the first person to wear and operate two prosthetic arms using only his mind. Jen Markham has the story. Video provided by Buzz60
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