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Comment
. 2011 Jul 22;109(3):248-9.
doi: 10.1161/RES.0b013e31822a19fe.

Genetics of vascular calcification

Elizabeth M McNally  1
Affiliations
Comment

Genetics of vascular calcification

Elizabeth M McNally. Circ Res. .

Abstract

Recessive mutations in the NTE5 gene were recently described in lower-extremity vascular calcification. ENPP1 mutations were previously described in a severe disorder of vascular calcification in infancy. Together these data support that extracellular adenosine and pyrophosphate are essential components of the pathways in vascular disease.

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Figures

Figure.
Figure.
Mutations in 2 genes, ENNP1 and NT5E, have now been associated with inherited forms of vascular calcification. These genes encode proteins that hydrolyze extracellular ATP to AMP, pyrophosphate (PPi), and inorganic phosphate (Pi). These compounds inhibit and promote bony formation in tissues, respectively. Adenosine, through the adenosine receptor, is thought to downregulate tissue neutral alkaline phosphatase and inhibit calcification.
See this image and copyright information in PMC

Comment on

  • NT5E mutations and arterial calcifications.
    St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.

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