Researchers elucidate a molecular mechanism associated with an immune disorder

June 7, 2012

A team of researchers at the IRCM led by Dr. André Veillette made an important breakthrough in the field of immunology, which will be published online today by the scientific journal Immunity. The scientists explained a poorly understood molecular mechanism associated with a human immune disorder known as XLP disease or Duncan's syndrome.

"We studied the SAP molecule, which plays a critical role in multiple different types of immune cells," says Dr. Veillette, Director of the Molecular Oncology research unit at the IRCM. "More specifically, we wanted to understand why SAP is an essential component of natural killer cells' ability to eliminate abnormal blood cells."

Natural killer (NK) cells are crucial to the immune system, and provide rapid responses against cancer and virus-infected cells, especially blood cells as can be found in leukemia and lymphomas. Patients with XLP are at a high risk of developing lymphomas.

"Until now, the way by which SAP enhances NK cells' response to abnormal blood cells was not well understood," explains Zhongjun Dong, former researcher in Dr. Veillette's laboratory and first author of the article. "We discovered that SAP stimulates the function of NK cells through a double mechanism. On one hand, it couples the necessary genes and enzymes to increase NK cell responses, and on the other hand, it prevents genes from inhibiting these responses." Dr. Dong is now a professor at Tsinghua University, a leading university in China.

"The SAP molecule is important in immunity, as it is associated with most cases of XLP disease," adds Dr. Veillette. "In addition, our findings may have implications on the role of SAP in other diseases such as lupus and arthritis."

According to the XLP Research Trust, X-linked lymphoproliferative disease (XLP), also known as Duncan's syndrome, is a fatal disease affecting boys worldwide. The cause of the condition was only found in 1998, so many cases may not yet have been properly diagnosed. If untreated, approximately 70% of patients with XLP die by the age of 10.

Dr. Veillette's research is funded by the Canada Research Chairs program and the Canadian Institutes for Health Research (CIHR). "I applaud Dr. Veillette and his team for their research in the field of human immune disorder and their breakthrough discovery in understanding the role of the SAP protein in controlling abnormal ," said Dr. Marc Ouellette, Scientific Director of the CIHR Institute of Infection and Immunity. "Their work will contribute to a better understanding of our immune system and how to treat human immune diseases for improved health for all Canadians."

Explore further: Potential gene therapy for patients with rare disease

More information: For more information on this discovery, please refer to the article summary published online by Immunity: www.cell.com/immunity/abstract … 1074-7613(12)00231-2

Related Stories

Potential gene therapy for patients with rare disease

April 12, 2012
Australian scientists have discovered that a biological phenomenon known as ‘somatic reversion’, when an abnormal gene spontaneously becomes normal again, explains why some patients with a rare genetic disorder ...

Surprising role for suppressive cytokine in antiviral immune responses

September 15, 2011
(Medical Xpress) -- A molecule normally implicated in restraining immune responses is also capable of stimulating defences against virus infection, according to new research, by promoting the survival of a population of immune ...

Recommended for you

Australian researchers in peanut allergy breakthrough

August 17, 2017
Australian researchers have reported a major breakthrough in the relief of deadly peanut allergy with the discovery of a long-lasting treatment they say offers hope that a cure will soon be possible.

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Study identifies a new way to prevent a deadly fungal infection spreading to the brain

August 16, 2017
Research led by the University of Birmingham has discovered a way to stop a deadly fungus from 'hijacking' the body's immune system and spreading to the brain.

Biophysics explains how immune cells kill bacteria

August 16, 2017
(Tokyo, August 16) A new data analysis technique, moving subtrajectory analysis, designed by researchers at Tokyo Institute of Technology, defines the dynamics and kinetics of key molecules in the immune response to an infection. ...

How a nutrient, glutamine, can control gene programs in cells

August 15, 2017
The 200 different types of cells in the body all start with the same DNA genome. To differentiate into families of bone cells, muscle cells, blood cells, neurons and the rest, differing gene programs have to be turned on ...

Scientists identify gene that controls immune response to chronic viral infections

August 15, 2017
For nearly 20 years, Tatyana Golovkina, PhD, a microbiologist, geneticist and immunologist at the University of Chicago, has been working on a particularly thorny problem: Why are some people and animals able to fend off ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.