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NIH researchers identify genetic cause of new vascular disease – 1
Narrator: This is NIH Health Matters. I’m Joe Balintfy. Nine individuals from three unrelated families are the only people known to have a rare, painful vascular condition. The pain is from calcium buildup in arteries below the waist and in joints of the hands and feet. Dr. William Gahl, with the National Human Genome Research Institute and the NIH Undiagnosed Diseases Program, says the disease is caused by one gene.
Gahl: The NT5E gene is like many other genes. It encodes a protein and the protein is called CD73 and that is what makes it special.
Narrator: He explains, a defect stops the protein production and that leads to the calcification. For details, visit www.nhgri.nih.gov. Health Matters is produced by the National Institutes of Health, part of the U.S. Department of Health and Human Services.
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