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Momentum Building in Lupus Gene Research

Posted by Jane Akre
Monday, January 21, 2008 11:32 AM EST
Category: Major Medical, Protecting Your Family
Tags: FDA and Prescription Drugs


Momentum is building into the genetic components of lupus.


One and a half million Americans and five million worldwide suffer from the auto-immune disease lupus have some good news this morning.

Two rival companies are working on understanding the genetic components of lupus that tends to run in families, strikes women eight times more often than men, and a disproportionate number of African-Americans.

Two studies published represent a momentum in uncovering the genetic components of lupus and represent a breakthrough in understanding this mysterious autoimmune disease.

Researchers from Genentech took samples from 1,311 people with lupus compared to 3,340 without the disease and identified regions on two chromosomes that may predispose someone to lupus. 

Genentech Inc. says it has discovered two new genes linked to the disease which might lead to earlier diagnosis and treatment.   The new gene are BLK and ITGAM and are the subject of a reporting the New England Journal of Medicine’s online edition Sunday.

Genentech Inc. scientists Timothy Behrens and his team believe the BLK gene impacts B cells which are a component of the immune system.  ITGAM affects T cells which cause the auto-immune syndrome where a patient’s cells begin to attack each other.

The findings were replicated.  The genetic component of lupus indicates that finding the chromosomes responsible might lead to the development of drugs that target treatment early and to improve diagnosis.

It’s been a bit of a race among researchers which has led to another published study this one in Nature Genetics by the International Consortium for Systemic Lupus Erythematosus Genetics.

In it, an international team of investigators looked at over 300,000 genetic variants in a total of 2,566 women with lupus and 4,162 healthy people with no signs of the disease.

Dr. David Karp, Chief of the Rheumatic Diseases Division of the University of Texas Southwestern Medical Center in Dallas and Vice Chair of the Lupus Foundation of America Medical-Scientific Advisory Council says, "They confirm in a very rigorous fashion some of the genes we already knew that were risk factors for getting lupus, but they also identified four new genes that are strongly associated with lupus and ten others that are possible risk factors."

"The findings of these studies are significant. By identifying specific genes which may contribute to increasing an individual’s risk for developing lupus, it may be possible to develop new treatments aimed at the underlying problem instead of just at the symptoms," said Sandra C. Raymond, President & CEO of the Lupus Foundation of America,

Lupus is a chronic autoimmune disease that weakens the immune system and attacks blood vessels, therefore impacting every organ with a blood supply including the heart, brain joints and kidney. 

Sufferers can die from heart damage, strokes and heart attacks.  The disease is unpredictable, often undiagnosed, and no cure exists. Symptoms include a skin rash known as a “butterfly” rash, patchy redness on the skin that can cause scarring, photosensitivity, mucus membrane ulcers, arthritis, among other symptoms.

Genentech’s targets B cells that express the BLK gene, but scientists believe there may be 20 or 30 more genes involved in lupus.

Of course getting the body to stop attacking itself in the first place is the ideal.

Neuromuscular Integration Technique developed by Australian osteopath Tom Bowen in the 1950's helps the body reverse dysfunction and has seeen some sucess in reversing the pain of lupus.  Dr. Josph Mercola, who advocates the natural ability of the body to fight disease, says lupus responds to a similar course as treatment for rheumatoid arthritis.

On the drug front, Genentech has an experimental drug to treat lupus- a compound called anti-CD20 antibody. It joins Rituxin, an older drug widely used in cancer treatment. Not yet approved for lupus, Rituxin targets B cells which express the BLK gene. But in December 2006, the FDA issued a warning after two lupus patients died of brain infections after taking Rituxin.  Reports are the patients had other risk factors.

Wednesday, January 23, Dr. Peter Chira from Stanford will hold a live chat to talk to teens about lupus and other chronic health problems.

The Lupus Foundation of America has 300 chapters and is dedicated to research, patient education and support of families suffering from lupus. #

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