U scientists discover genetic links among lupus patients

Dylan Thomas

University researchers have identified a genetic link shared by many patients with severe lupus, a discovery which might lead to new diagnosis and treatment methods for a complex disease disproportionately targeting women and minorities.

University professor Timothy Behrens led researchers in examining the blood cells of lupus patients. They found specific patterns of gene expression – the way a gene acts within the body – which are common to patients with severe lupus.

“We’re not quite ready to have a new diagnostic test next month, but this is the sort of thing that can lead Ö fairly quickly to a better diagnostic test,” Behrens said.

Systemic lupus erythematosus, commonly known as lupus, is an autoimmune disease – one in which the body’s immune system, which normally fends off disease, turns against the body itself. Immune system antibodies begin attacking organs, commonly targeting the skin, kidneys and central nervous system.

Currently, methods for diagnosis are not highly accurate and treatments vary widely depending on how the disease manifests itself in certain patients, Behrens said.

Emily Baechler, a University graduate student and research assistant, explained that the research could lead to new lupus treatments because the data on genetic expression patterns they gathered relates to certain immune system pathways, or sets of genes that operate in the same manner.

It is then possible that drugs could be developed to target those specific immune system pathways, preventing the lupus from turning the body against itself, Baechler said.

Behrens said lupus is currently diagnosed by recognizing certain symptoms and then conducting blood tests. However, the blood tests are not very accurate, and a test developed from the research has the potential to be an important improvement, he said.

Barbara Segal, a University professor and clinician who works with lupus patients, said a patient might see several doctors before lupus is correctly diagnosed.

“That’s in part because of the lack of a single, specific test that can rule (lupus) in or rule (lupus) out, and also because the disease evolves over time,” Segal said.

Baechler said the severity of the disease is determined by which organs are affected. Behrens said while some people might live a full life with a less severe form of the disease, many others are not as lucky.

“It’s a little bit random. So, some people just have a bad disease right from the moment they are diagnosed,” Behrens said.

Behrens said the 10-year survival rate for those diagnosed with lupus is 85 percent, a survival rate lower than other autoimmune diseases, such as diabetes and multiple sclerosis.

The genetic links among patients with severe lupus were found using advanced microarray technology. A microarray is new technology allowing researchers to measure the gene expression of thousands of genes simultaneously instead of individually.

To make the new information about gene expression more useful for testing in clinical settings, Behrens and his team are looking for ways that the differences in gene expression could be observed at the protein level. This would make for a test that is easier and more affordable than one requiring microarray technology.

Genetic factors cause lupus to affect certain groups disproportionately, such as women and people of specific races. Nine out of 10 lupus patients are women; black, Hispanic, Asian and American Indian women are more likely to have lupus than white women, Behrens said.

He said studying the genetic differences between those groups might direct future research.

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