BALTIMORE, June 24 (UPI) -- U.S. scientists say a gene previously identified as causing gout can lead to high concentrations of blood urate that forms crystals in joint tissues.
Johns Hopkins University researchers were part of an international team that surveyed the genomes of 12,000 individuals to find the genetic cause for gout. Now the Johns Hopkins scientists have shown the malfunctioning gene, ABCG2, can lead to high concentrations of blood urate that causes joint inflammation and pain -- the hallmark of the disease.
The researchers said they've discovered the ABCG2 gene makes a protein that normally transports urate from the kidney and into urine before the waste product does any harm. But in studies using frog egg cells genetically engineered with human DNA, the Hopkins researchers established the specific role of the ABCG2 gene as a cause of gout.
The scientists said their finding lends credence to suspicions that metabolic deficiencies, along with too much rich food and alcohol, are mostly to blame for the painful type of arthritis that affects 3 million Americans. The gene, they believe, may be responsible for some 10 percent of gout in Caucasians.
A report on the new research appeared in the June 8 early online edition of the Proceedings of the National Academy of Sciences.
