NIH Radio
NIH researchers identify genetic cause of new vascular disease – 4
Narrator: This is NIH Health Matters. I’m Joe Balintfy. A new genetic disease has been identified. It’s rare, debilitating, and is the result of an error in one gene.
Gahl: So the gene is defective and the gene product was not being made or it was being made improperly. Therefore it wasn’t functioning appropriately.
Narrator: Dr. William Gahl is with the National Human Genome Research Institute. He says that gene product is a protein, called CD73.
Gahl: So if you had a defect in that gene you’re not producing the CD73 protein and therefore there’s calcification that occurs.
Narrator: Painful calcification occurs in blood vessels below the waist and in joints of the hands and feet. For details, visit www.genome.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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