Document Detail

PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.
MedLine Citation:
PMID:  11159191     Owner:  NLM     Status:  MEDLINE    
Inogranic pyrophosphate (PPi) inhibits hydroxyapatite deposition, and mice deficient in the PPi-generating nucleoside triphosphate pyrophosphohydrolase (NTPPPH) Plasma cell membrane glycoprotein-1 (PC-1) develop peri-articular and arterial calcification in early life. In idiopathic infantile arterial calcification (IIAC), hydroxyapatite deposition and smooth muscle cell (SMC) proliferation occur, sometimes associated with peri-articular calcification. Thus, we assessed PC-1 expression and PPi metabolism in a 25-month-old boy with IIAC and peri-articular calcifications. Plasma PC-1 was <1 ng/ml by enzyme-linked immunosorbent assay in the proband, but 10 to 30 ng/ml in unaffected family members and controls. PC-1 functioned to raise extracellular PPi in cultured aortic SMCs. However, PC-1 was sparse in temporal artery lesion SMCs in the proband, unlike the case for SMCs in atherosclerotic carotid artery lesions of unrelated adults. Proband plasma and explant-cultured dermal fibroblast NTPPPH and PPi were markedly decreased. The proband was heterozygous at the PC-1 locus, and sizes of PC-1 mRNA and polypeptide, and the PC-1 mRNA-coding region sequence were normal in proband fibroblasts. However, immunoreactive PC-1 protein was relatively sparse in proband fibroblasts. In conclusion, deficient extracellular PPi and a deficiency of PC-1 NTPPPH activity can be associated with human infantile arterial and peri-articular calcification, and may help explain the sharing of certain phenotypic features between some IIAC patients and PC-1-deficient mice.
F Rutsch; S Vaingankar; K Johnson; I Goldfine; B Maddux; P Schauerte; H Kalhoff; K Sano; W A Boisvert; A Superti-Furga; R Terkeltaub
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The American journal of pathology     Volume:  158     ISSN:  0002-9440     ISO Abbreviation:  Am. J. Pathol.     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-04-05     Revised Date:  2013-06-11    
Medline Journal Info:
Nlm Unique ID:  0370502     Medline TA:  Am J Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  543-54     Citation Subset:  AIM; IM    
Department of Pediatrics, Municipal Children's Hospital, Dortmund, Germany.
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MeSH Terms
Arteriosclerosis / enzymology*,  pathology
Blotting, Northern
Calcinosis / enzymology*,  pathology
Cells, Cultured
Child, Preschool
DNA / chemistry,  genetics
Diphosphates / metabolism
Extracellular Space / chemistry,  metabolism
Family Health
Fibroblasts / cytology,  metabolism
Gene Expression Regulation, Enzymologic
Membrane Glycoproteins / blood,  deficiency*,  genetics
Microscopy, Confocal
Muscle, Smooth, Vascular / cytology,  enzymology
Phosphoric Diester Hydrolases*
Pyrophosphatases / metabolism
RNA / genetics,  metabolism
Sequence Analysis, DNA
Skin / cytology,  metabolism
Grant Support
Reg. No./Substance:
0/Diphosphates; 0/Membrane Glycoproteins; 63231-63-0/RNA; 9007-49-2/DNA; EC 3.1.4.-/Phosphoric Diester Hydrolases; EC pyrophosphatase phosphodiesterase 1; EC 3.6.1.-/Pyrophosphatases; EC triphosphate pyrophosphatase

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

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