State expert finds clues to save lives

Lupus discovery

Dr. Amr Sawalha has found a gene on the X chromosome that likely plays a role in lupus. Lupus causes the immune system to fight the body. Researchers don't know what causes lupus, but it occurs far more in women. Sawalha's findings coupled with the fact that women have two X chromosomes may explain why women are more likely to suffer from the disease.

About lupus

No cure or definitive test exists. Lupus symptoms can range from mild to life threatening, and include:

•Aching joints, arthritis

•Anemia

•Sensitivity to light

•Hair loss

•Painless ulcers in the nose or mouth

•Atypical blood clotting

•Facial rashes

•Frequent fevers higher than 100 degrees

Source: Lupus Foundation

n who have Klinefelter's syndrome, in which they have an extra X chromosome, have a lupus risk similar to women's.

Because lupus' causes are unknown, Sawalha and others are focusing on identifying genes that are more often seen in lupus patients than in those who don't have the disease.

More steps ahead

He said lupus likely is "polygenic,” meaning it is caused by two or more genes, and has environmental triggers as well.

The next step, he said, will be to study the mutated gene's chemical sequence to potentially treat or diagnose lupus.

"We want to know exactly where it is and what it will do,” he said.

Fellow OMRF lupus researcher Dr. John Harley and an international consortium in January identified 13 genes they think contribute to lupus.

OMRF is home to the Lupus Family Registry and Repository, a collection of blood samples from lupus patients and family members without lupus. By studying the differences among closely related donors, researchers seek to determine which genes predispose a person to developing lupus.

Samples from the repository were used in Sawalha's study.

OMRF President Dr. Stephen Prescottcommended the foundation that Sawalha's work lays.

"Sometimes understanding the basics of a disease is the key to finding more effective treatments,” Prescott said of the recent findings.

Page 2 of 2