Johns Hopkins scientists now have shown that the malfunctioning gene they helped uncover can lead to high concentrations of blood urate that forms crystals in joint tissue, causing inflammation and pain the hallmark of this disease, Gout.
The ABCG2 gene, they found, makes a protein that normally transports urate out of the kidney and into urine before the waste product does any harm. In studies using frog egg cells genetically engineered with human DNA, the Hopkins researchers established the role of the ABCG2 gene as a cause of gout, lending credence to suspicions that metabolic deficiencies, in addition to too much rich food and alcohol, are mostly to blame for this painful type of arthritis that affects 3 million Americans. The gene, they believe, may be responsible for some 10 percent of gout in Caucasians.
Subjects also reported whether they had ever been diagnosed with gout, enabling researchers to link information from DNA, uric acid levels and gout.
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