Document Detail


Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
MedLine Citation:
PMID:  21371928     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural     Date:  2011-02-03
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  103     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-04-25     Completed Date:  2011-08-04     Revised Date:  2014-04-08    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  44-50     Citation Subset:  IM    
Copyright Information:
Published by Elsevier Inc.
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MeSH Terms
Descriptor/Qualifier:
5'-Nucleotidase / deficiency*,  genetics
Adenosine / metabolism*
Adult
Arteries / pathology*
Calcinosis / pathology*,  radiography
Female
Fibroblasts / metabolism
GPI-Linked Proteins / deficiency,  genetics
Genotype
Humans
Models, Biological
Mutation / genetics
Pseudoxanthoma Elasticum / metabolism*,  pathology*,  radiography
Grant Support
ID/Acronym/Agency:
Z01 HG200322-03/HG/NHGRI NIH HHS; Z99 HG999999/HG/NHGRI NIH HHS; Z99 HL999999/HL/NHLBI NIH HHS; ZIA HL006077-01/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/GPI-Linked Proteins; EC 3.1.3.5/5'-Nucleotidase; EC 3.1.3.5/NT5E protein, human; K72T3FS567/Adenosine
Comments/Corrections
Comment In:
Mol Genet Metab. 2011 Jun;103(2):199-200   [PMID:  21497121 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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