| PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. | |
| | |
MedLine Citation:
|
PMID: 11159191 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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: 2009-11-18 |
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 |
Affiliation:
|
Department of Pediatrics, Municipal Children's Hospital, Dortmund, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Arteriosclerosis
/
enzymology*,
pathology Blotting, Northern Calcinosis / enzymology*, pathology Cells, Cultured Child Child, Preschool DNA / chemistry, genetics Diphosphates / metabolism Extracellular Space / chemistry, metabolism Family Health Female Fibroblasts / cytology, metabolism Gene Expression Regulation, Enzymologic Humans Immunohistochemistry Infant Male Membrane Glycoproteins / blood, deficiency*, genetics Microscopy, Confocal Muscle, Smooth, Vascular / cytology, enzymology Pedigree Phosphoric Diester Hydrolases* Pyrophosphatases / metabolism RNA / genetics, metabolism Sequence Analysis, DNA Skin / cytology, metabolism |
| Grant Support | |
ID/Acronym/Agency:
|
DK52999/DK/NIDDK NIH HHS; HL61731/HL/NHLBI NIH HHS; P01AGO7996/AG/NIA NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Diphosphates; 0/Membrane Glycoproteins; 63231-63-0/RNA; 9007-49-2/DNA; EC 3.1.4.-/Phosphoric Diester Hydrolases; EC 3.1.4.1/ectonucleotide pyrophosphatase phosphodiesterase 1; EC 3.6.1.-/Pyrophosphatases; EC 3.6.1.19/nucleoside triphosphate pyrophosphatase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Nuclear localization of Dpc4 (Madh4, Smad4) in colorectal carcinomas and relation to mismatch repair...
Next Document: Age-dependent induction of congophilic neurofibrillary tau inclusions in tau transgenic mice.