Lupus, an incurable disease that strikes more than 16,000 Americans a year, causes the body's immune system to turn against itself, creating antibodies that will fight and kill their own cells. In a significant move, geneticists are now saying that a small change in a single gene contributes to the development of the disease in some people.
Lupus Symptoms can vary from joint pain, fever, arthritis, rash, and sensitivity to light for kidney and blood-clotting problems of life in danger. Although the disease seems to run in families, researchers have yet to identify the gene or genes that cause. However, mouse studies showing symptoms of lupuslike suggested that a gene called PDCD1 - which is known to help the body recognize foreign cells -. May play a role
Geneticist Marta Alarcon-Riquelme of Uppsala University in Sweden led an international team of researchers whether PDCD1 is also associated with lupus in humans . The team recruited 2510 people of European-American, Mexican, and African-American descent families with single or multiple cases of lupus, and families with no known history of the disease. The team decoded PDCD1 DNA of each person and found a single mutation - a change in a nucleotide letter of the genetic code -. Associated with lupus in 12% percent of European Americans and 7% of Mexicans
based on the location of the mutation in the DNA code, researchers believe that the mutation prevents a protein called RUNX1 of binding to the PDCD1 gene [ParcequeRUNX1estpensépouraiderlescellulescopientl'ADNcettedéconnexionpourraitperturberlacapacitédescellulesimmunitairesàdistinguerlesproprescellulesducorpscontrelesmicrobesenvahisseursenempêchantlescellulesd'exprimerlabonnequantitéde PDCD1 , the team argued in October 28 Nature Genetics . This mutation is not the only cause of lupus, though; it has also been found in 5% of European Americans and 2% of Mexicans who do not have lupus. And mutation was almost nonexistent in the African American population.
"This is a great advance for researchers to work with and we now have a testable hypothesis to continue," said rheumatologist Paul Utz of Stanford University in California. The next step, Utz said, is whether RUNX1 really play a role in the regulation of PDCD1 gene.
Related Sites
homepage Utz
Lupus Foundation of America
0 Komentar