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Researchers identify biochemical mechanism behind a rare, painful genetic disease

Study might open door to first effective treatment for ACDC disease

Date:
December 13, 2016
Source:
NIH/National Heart, Lung and Blood Institute
Summary:
A team of researchers has uncovered a possible biochemical mechanism behind a rare, painful genetic disorder called ACDC disease, which causes calcium buildup in the arteries. The finding could lead to the first effective treatment for the potentially debilitating condition and might provide insight into other vascular diseases, including atherosclerosis, the researchers say.
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A team of researchers at the National Institutes of Health has uncovered a possible biochemical mechanism behind a rare, painful genetic disorder called ACDC disease, which causes calcium buildup in the arteries. The finding could lead to the first effective treatment for the potentially debilitating condition and might provide insight into other vascular diseases, including atherosclerosis, the researchers say. The study is in the Dec. 13 issue of Science Signaling. ACDC is short for arterial calcification due to deficiency of CD73. (CD73 is an enzyme that reduces calcium buildup in the arteries). The disease targets the hands and feet and can limit a person's ability to walk and exercise.

In the current study, researchers discovered how a deficiency of CD73 triggers a cascade of adverse biochemical events that leads to increased calcium buildup. That discovery quickly fueled progress on a possible treatment. Scientists generated stem cells from the skin of patients with ACDC disease and injected them into mouse models. They found that tissue formed in the mice by the patient-derived cells calcified over time. The researchers showed that treating these mice with several drugs including etidronate, which is used to strengthen bone in certain diseases involving bone loss, helped reduce calcification of the human tissue. The findings suggest that a similar strategy might help treat people with ACDC disease.


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Materials provided by NIH/National Heart, Lung and Blood Institute. Note: Content may be edited for style and length.


Journal Reference:

  1. H. Jin, C. St. Hilaire, Y. Huang, D. Yang, N. I. Dmitrieva, A. Negro, R. Schwartzbeck, Y. Liu, Z. Yu, A. Walts, J.-M. Davaine, D.-Y. Lee, D. Donahue, K. S. Hsu, J. Chen, T. Cheng, W. Gahl, G. Chen, M. Boehm. Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC. Science Signaling, 2016; 9 (458): ra121 DOI: 10.1126/scisignal.aaf9109

Cite This Page:

NIH/National Heart, Lung and Blood Institute. "Researchers identify biochemical mechanism behind a rare, painful genetic disease: Study might open door to first effective treatment for ACDC disease." ScienceDaily. ScienceDaily, 13 December 2016. <www.sciencedaily.com/releases/2016/12/161213161102.htm>.
NIH/National Heart, Lung and Blood Institute. (2016, December 13). Researchers identify biochemical mechanism behind a rare, painful genetic disease: Study might open door to first effective treatment for ACDC disease. ScienceDaily. Retrieved May 27, 2017 from www.sciencedaily.com/releases/2016/12/161213161102.htm
NIH/National Heart, Lung and Blood Institute. "Researchers identify biochemical mechanism behind a rare, painful genetic disease: Study might open door to first effective treatment for ACDC disease." ScienceDaily. www.sciencedaily.com/releases/2016/12/161213161102.htm (accessed May 27, 2017).

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