Genetic Calcification Disorder May Lead To Better Treatment of Atherosclerosis Interview with:

Manfred Boehm M.D. Senior Investigator Laboratory of Cardiovascular Regenerative Medicine Center for Molecular Medicine NHLBI-NIH Bethesda, MD 20892

Dr. Manfred Boehm

Manfred Boehm M.D.
Senior Investigator
Laboratory of Cardiovascular Regenerative Medicine
Center for Molecular Medicine
Bethesda, MD 20892 What is the background for this study? What are the main findings?

Response: Common atherosclerosis (hardening of blood vessels) is the leading cause for vascular diseases worldwide. Vascular calcification is a critical component of atherosclerosis and an indicator of negative outcomes. This process is highly regulated and dynamic. However, the underlying mechanism is poorly understood and no direct treatment is available to stop or reverse this devastating buildup of calcium crystals in the vessel wall. Arterial calcification due to deficiency of CD73 is a rare inherited vascular disease characterized by extensive calcification of blood vessels caused by mutation in a gene encoding an enzyme that generates a compound called Adenosine outside of cells. The lack of this important enzyme, CD73, activates a compensatory mechanism to generated Adenosine by an alternative enzyme. Unfortunately, increased activity of this other enzyme is causing accelerated vascular calcification. By using the patient’s own cells, this study characterized the compensatory signaling pathway and discovered several new treatment strategies. What should readers take away from your report?

Response: Vascular calcification is a dynamic process and not a one-way street. If better understood, we might be able to stop and possibly even reverse it. The study of rare inherited diseases with vascular calcifications may directly help those who are suffering from these rare devastating conditions but it might also, indirectly, shed light into similar processes in common vascular diseases such as atherosclerosis. Scientific investigations like this help increase our understanding of rare and common diseases and identify new therapeutic strategies to target them. What recommendations do you have for future research as a result of this study?

Response: For better treatment of patients with vascular calcification, we need to increase our effort to understand the cause of this process and then, we need to identify the underlying mechanism to reverse or prevent it. Is there anything else you would like to add?

Response: “the history of biomedical research has taught us that careful study of baffling cases can provide new insights into the mechanisms of disease – both rare and common”
former NIH Director Elias A. Zerhouni, M.D. Thank you for your contribution to the community.


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

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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Last Updated on December 20, 2016 by Marie Benz MD FAAD