Research Reveals Lupus May Have Simple Cause
Research from scientists at the University of California, San Francisco (UCSF), has revealed that a single defect in a common protein causes a severe autoimmune disease akin to lupus.
About The Research
The research, based on genetic experiments in mice and studies of protein interactions, suggests that lupus in humans might be an inherited disease with a simple genetic root as opposed to a collection of many genetic defects as previously thought.
The research findings are evidence that a single genetic mutation can cause autoimmune disease, with the specific defect being dominant over the normal condition. If a gene for a particular disease is dominant, a single copy of the gene can cause the disease, however, if the gene is recessive, copies from both parents are necessary to cause the disease. Most of the genetic causes of autoimmune diseases which have been previously identified were recessive.
Transmembrane Receptor Protein
The research findings also back the theory that what is called "lupus" may actually be various diseases which result from a common pathway. The research from UCSF indicated that a lupus-like syndrome could result from a single amino acid change in a key protein sequence on the surface of immune system cells. Since the protein is part of almost all immune cells in humans and mice, the common symptoms usually associated with lupus, could be caused by the single defect in the protein. Symptoms commonly associated with lupus can include:
- inflammation of the heart and lungs
- kidney failure
- arthritis
Other forms of autoimmunity, as well, could be caused by the protein defect. The protein is known as a transmembrane receptor protein and normally receives signals from outside the cell and triggers internal responses.
More About Lupus
Lupus is one of the autoimmune diseases. Lupus affects one in 2000 people in the United States, is more prevalent in women than men, 9 to 1. People with lupus produce abnormal antibodies in their blood which target tissues within their own body.
The chronic inflammation which is associated with this condition can affect the:
- skin
- heart
- lungs
- kidneys
- joints
- nervous system
When only the skin is affected, the condition is known as discoid lupus. When other internal organs are affected, the condition is known as systemic lupus erythematosus.
Future research, which will be aimed at confirming the findings from UCSF researchers, will hopefully lead to new drugs and new treatments.
Related Resources
Source: Debilitating lupus disease may have simple cause, new UCSF research shows, EurekAlert, 12/21/00
First published: 12/23/2000
