Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum

Thomas C. Markello, Laura K. Pak, Cynthia St. Hilaire, Heidi Dorward, Shira G. Ziegler, Marcus Y. Chen, Krishna Chaganti, Robert L. Nussbaum, Manfred Boehm, William A. Gahl

Research output: Contribution to journalArticlepeer-review

Abstract

Arterial Calcification due to Deficiency of CD73 (ACDC) results from mutations in the NT5E gene encoding the 5' exonucleotidase, CD73. We now describe the third familial case of ACDC, including radiological and histopathological details of the arterial calcifications. The medial lesions involve the entire circumference of the elastic lamina, in contrast to the intimal plaque-like disease of atherosclerosis. The demonstration of broken and fragmented elastic fibers leading to generalized vascular calcification suggests an analogy to pseudoxanthoma elasticum (PXE), which exhibits similar histopathology. Classical PXE is caused by deficiency of ABCC6, a C type ABC transporter whose ligand is unknown. Other C type ABC proteins transport nucleotides, so the newly described role of adenosine in inhibiting vascular calcification, along with the similarity of ACDC and PXE with respect to vascular pathology, suggests that adenosine may be the ligand for ABCC6.

Original languageEnglish (US)
Pages (from-to)44-50
Number of pages7
JournalMolecular genetics and metabolism
Volume103
Issue number1
DOIs
StatePublished - May 2011
Externally publishedYes

Keywords

  • Adenosine metabolism
  • Artery
  • Calcification
  • Connective tissue
  • Elastic tissue
  • Pseudoxanthoma

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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