Undiagnosed Disease turns out to be a severe disorder

New Scientist, 02 February 2011:

AN 18-month wait for a diagnosis might seem extreme, but not when the medical disorder in question was formerly unknown.

In 2008, the US National Institutes of Health established the Undiagnosed Diseases Program (UDP) to help people with mysterious conditions. This week it announced its first big discovery: the genetic and molecular basis of a previously unexplained condition that causes painful calcification of the arteries.

Currently, only nine individuals are known to have the disorder, dubbed "arterial calcification due to CD73 deficiency". Researchers analysed the DNA of five affected siblings and found that they all had mutations of the NT5E gene, which codes for the CD73 enzyme that produces adenosine - a molecule that helps prevent arteries from calcifying (The New England Journal of Medicine, vol 364, p 432). The findings offer targets for a treatment.

The discovery is impressive for its speed and technical prowess, says William Gahl, director of the UDP. "The role of adenosine was not known before."