Lupus May Have Simple Cause

January 1, 2001

Researchers Uncover Another Piece Of The Puzzle

New 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. 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 new 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.

The new 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 such as inflammation of the heart and

lungs, kidney failure, and arthritis, as well as other forms of autoimmunity,

could all be caused by the single defect in the protein. The protein is known

as a transmembrane receptor protein and normally receives signals from outside

the cell and triggers internal responses.

Lupus, which affects one in 2000 people in the United States, is more prevalent

in women than men, 9 to 1. Future research, which will be aimed at confirming

the findings from UCSF researchers, will hopefully lead to new drugs and new

treatments.

REFERENCE:

Debilitating lupus disease may have simple cause, new UCSF research shows,

EurekAlert, 12/21/00

101e

Recommended Posts