Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a hereditary disorder of the connective tissue affecting the skin, retina, and cardiovascular system and characterized by progressive calcification of abnormal and fragmented elastic fibers in the extracellular matrix. The aim of the present study was to investigate...
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| Veröffentlicht in: | Clinical chemistry (Baltimore, Md.) Md.), 2006-02, Vol.52 (2), p.227-234 |
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| creator | Hendig, Doris Schulz, Veronika Arndt, Marius Szliska, Christiane Kleesiek, Knut Gotting, Christian |
| description | Pseudoxanthoma elasticum (PXE) is a hereditary disorder of the connective tissue affecting the skin, retina, and cardiovascular system and characterized by progressive calcification of abnormal and fragmented elastic fibers in the extracellular matrix. The aim of the present study was to investigate the association of fetuin-A, a major systemic inhibitor of calcification, with PXE.
Fetuin-A was measured by quantitative sandwich enzyme immunoassay in sera from 110 German patients with PXE, 53 unaffected first-degree family members, and 80 healthy blood donors. We determined the distribution of the fetuin-A polymorphisms c.742C>T (p.T248M) and c.766C>G (p.T256S) in these same 3 groups. The occurrences of the frequent ABCC6 gene mutations c.3421C>T (p.R1141X) and c.EX23_EX29del were also assessed.
Serum fetuin-A concentrations in male and female PXE patients were lower than in unaffected first-degree relatives and controls [mean (SD) concentrations, 0.55 (0.11) g/L in patients; 0.70 (0.23) g/L in relatives; and 0.80 (0.23) g/L in controls (P |
| doi_str_mv | 10.1373/clinchem.2005.059253 |
| format | Article |
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Fetuin-A was measured by quantitative sandwich enzyme immunoassay in sera from 110 German patients with PXE, 53 unaffected first-degree family members, and 80 healthy blood donors. We determined the distribution of the fetuin-A polymorphisms c.742C>T (p.T248M) and c.766C>G (p.T256S) in these same 3 groups. The occurrences of the frequent ABCC6 gene mutations c.3421C>T (p.R1141X) and c.EX23_EX29del were also assessed.
Serum fetuin-A concentrations in male and female PXE patients were lower than in unaffected first-degree relatives and controls [mean (SD) concentrations, 0.55 (0.11) g/L in patients; 0.70 (0.23) g/L in relatives; and 0.80 (0.23) g/L in controls (P <0.0001)]. Serum fetuin-A was higher in female PXE patients with cardiovascular involvement than in the corresponding male group (P <0.05). The fetuin-A polymorphism frequencies did not differ among PXE patients, family members, and blood donors.
A deficiency of multidrug resistance-associated protein 6 leads to alteration of circulating substrates, e.g., inhibitors of calcification as fetuin-A, leading to progressive mineralization of elastic fibers in PXE.</description><identifier>ISSN: 0009-9147</identifier><identifier>EISSN: 1530-8561</identifier><identifier>DOI: 10.1373/clinchem.2005.059253</identifier><identifier>PMID: 16384891</identifier><identifier>CODEN: CLCHAU</identifier><language>eng</language><publisher>Washington, DC: Am Assoc Clin Chem</publisher><subject>alpha-2-HS-Glycoprotein ; Analytical, structural and metabolic biochemistry ; Biological and medical sciences ; Blood ; Blood & organ donations ; Blood Proteins - analysis ; Blood Proteins - genetics ; Blood Proteins - physiology ; Calcification ; Calcinosis - etiology ; Calcinosis - genetics ; Cardiovascular system ; Connective tissue ; DNA - analysis ; DNA Mutational Analysis ; Enzyme-Linked Immunosorbent Assay ; Extracellular matrix ; Female ; Fibers ; Fundamental and applied biological sciences. Psychology ; Genes ; Germany ; Glycoproteins ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Male ; Males ; Medical sciences ; Metabolism ; Middle Aged ; Mineralization ; Multidrug Resistance-Associated Proteins - genetics ; Mutation ; Patients ; Pedigree ; Polymorphism, Restriction Fragment Length ; Proteins ; Pseudoxanthoma Elasticum - blood ; Pseudoxanthoma Elasticum - complications ; Pseudoxanthoma Elasticum - genetics ; Signal transduction</subject><ispartof>Clinical chemistry (Baltimore, Md.), 2006-02, Vol.52 (2), p.227-234</ispartof><rights>2006 INIST-CNRS</rights><rights>Copyright American Association for Clinical Chemistry Feb 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c458t-97c624758f8a6aca127eebc0a986e2dccda15d728cff1602c2cace5beaae0d1a3</citedby><cites>FETCH-LOGICAL-c458t-97c624758f8a6aca127eebc0a986e2dccda15d728cff1602c2cace5beaae0d1a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17594672$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16384891$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hendig, Doris</creatorcontrib><creatorcontrib>Schulz, Veronika</creatorcontrib><creatorcontrib>Arndt, Marius</creatorcontrib><creatorcontrib>Szliska, Christiane</creatorcontrib><creatorcontrib>Kleesiek, Knut</creatorcontrib><creatorcontrib>Gotting, Christian</creatorcontrib><title>Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum</title><title>Clinical chemistry (Baltimore, Md.)</title><addtitle>Clin Chem</addtitle><description>Pseudoxanthoma elasticum (PXE) is a hereditary disorder of the connective tissue affecting the skin, retina, and cardiovascular system and characterized by progressive calcification of abnormal and fragmented elastic fibers in the extracellular matrix. The aim of the present study was to investigate the association of fetuin-A, a major systemic inhibitor of calcification, with PXE.
Fetuin-A was measured by quantitative sandwich enzyme immunoassay in sera from 110 German patients with PXE, 53 unaffected first-degree family members, and 80 healthy blood donors. We determined the distribution of the fetuin-A polymorphisms c.742C>T (p.T248M) and c.766C>G (p.T256S) in these same 3 groups. The occurrences of the frequent ABCC6 gene mutations c.3421C>T (p.R1141X) and c.EX23_EX29del were also assessed.
Serum fetuin-A concentrations in male and female PXE patients were lower than in unaffected first-degree relatives and controls [mean (SD) concentrations, 0.55 (0.11) g/L in patients; 0.70 (0.23) g/L in relatives; and 0.80 (0.23) g/L in controls (P <0.0001)]. Serum fetuin-A was higher in female PXE patients with cardiovascular involvement than in the corresponding male group (P <0.05). The fetuin-A polymorphism frequencies did not differ among PXE patients, family members, and blood donors.
A deficiency of multidrug resistance-associated protein 6 leads to alteration of circulating substrates, e.g., inhibitors of calcification as fetuin-A, leading to progressive mineralization of elastic fibers in PXE.</description><subject>alpha-2-HS-Glycoprotein</subject><subject>Analytical, structural and metabolic biochemistry</subject><subject>Biological and medical sciences</subject><subject>Blood</subject><subject>Blood & organ donations</subject><subject>Blood Proteins - analysis</subject><subject>Blood Proteins - genetics</subject><subject>Blood Proteins - physiology</subject><subject>Calcification</subject><subject>Calcinosis - etiology</subject><subject>Calcinosis - genetics</subject><subject>Cardiovascular system</subject><subject>Connective tissue</subject><subject>DNA - analysis</subject><subject>DNA Mutational Analysis</subject><subject>Enzyme-Linked Immunosorbent Assay</subject><subject>Extracellular matrix</subject><subject>Female</subject><subject>Fibers</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Germany</subject><subject>Glycoproteins</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Male</subject><subject>Males</subject><subject>Medical sciences</subject><subject>Metabolism</subject><subject>Middle Aged</subject><subject>Mineralization</subject><subject>Multidrug Resistance-Associated Proteins - genetics</subject><subject>Mutation</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Proteins</subject><subject>Pseudoxanthoma Elasticum - blood</subject><subject>Pseudoxanthoma Elasticum - complications</subject><subject>Pseudoxanthoma Elasticum - genetics</subject><subject>Signal transduction</subject><issn>0009-9147</issn><issn>1530-8561</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkFtr3DAQRkVpaLZp_0EpotA-xVtJti5-DEtukJDQy7M6O5ZrLbKVSDbb_Pt62S0LZR5mBs58DIeQD5wteanLrxj8gJ3rl4IxuWSyFrJ8RRZclqwwUvHXZMEYq4uaV_qUvM15M6-VNuoNOeWqNJWp-YL8-haDo7Gl312aenrlxskPxcU5BXoPm5jo7dD5tR_naQe95NH1HukKAvrWI4w-DufUD_Qxu6mJf2AYu9gDvQyQR49T_46ctBCye3_oZ-Tn1eWP1U1x93B9u7q4K7CSZixqjUpUWprWgAIELrRza2RQG-VEg9gAl40WBtuWKyZQIKCTawfgWMOhPCNf9rlPKT5PLo-29xldCDC4OGWrmWZMmXoGP_0HbuKUhvk3K3jFODOVmqFqD2GKOSfX2qfke0gvljO702__6bc7_Xavfz77eMie1r1rjkcH3zPw-QBARghtggF9PnJa1pXS4sh1_ne39cnZ3EMIcyy32-1WCjuX0OVfgD2dZw</recordid><startdate>20060201</startdate><enddate>20060201</enddate><creator>Hendig, Doris</creator><creator>Schulz, Veronika</creator><creator>Arndt, Marius</creator><creator>Szliska, Christiane</creator><creator>Kleesiek, Knut</creator><creator>Gotting, Christian</creator><general>Am Assoc Clin Chem</general><general>American Association for Clinical Chemistry</general><general>Oxford University Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>4U-</scope><scope>7QO</scope><scope>7RV</scope><scope>7TM</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PCBAR</scope><scope>PDBOC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>20060201</creationdate><title>Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum</title><author>Hendig, Doris ; Schulz, Veronika ; Arndt, Marius ; Szliska, Christiane ; Kleesiek, Knut ; Gotting, Christian</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c458t-97c624758f8a6aca127eebc0a986e2dccda15d728cff1602c2cace5beaae0d1a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>alpha-2-HS-Glycoprotein</topic><topic>Analytical, structural and metabolic biochemistry</topic><topic>Biological and medical sciences</topic><topic>Blood</topic><topic>Blood & organ donations</topic><topic>Blood Proteins - analysis</topic><topic>Blood Proteins - genetics</topic><topic>Blood Proteins - physiology</topic><topic>Calcification</topic><topic>Calcinosis - etiology</topic><topic>Calcinosis - genetics</topic><topic>Cardiovascular system</topic><topic>Connective tissue</topic><topic>DNA - analysis</topic><topic>DNA Mutational Analysis</topic><topic>Enzyme-Linked Immunosorbent Assay</topic><topic>Extracellular matrix</topic><topic>Female</topic><topic>Fibers</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes</topic><topic>Germany</topic><topic>Glycoproteins</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Male</topic><topic>Males</topic><topic>Medical sciences</topic><topic>Metabolism</topic><topic>Middle Aged</topic><topic>Mineralization</topic><topic>Multidrug Resistance-Associated Proteins - genetics</topic><topic>Mutation</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Proteins</topic><topic>Pseudoxanthoma Elasticum - blood</topic><topic>Pseudoxanthoma Elasticum - complications</topic><topic>Pseudoxanthoma Elasticum - genetics</topic><topic>Signal transduction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hendig, Doris</creatorcontrib><creatorcontrib>Schulz, Veronika</creatorcontrib><creatorcontrib>Arndt, Marius</creatorcontrib><creatorcontrib>Szliska, Christiane</creatorcontrib><creatorcontrib>Kleesiek, Knut</creatorcontrib><creatorcontrib>Gotting, Christian</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>University Readers</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Earth, Atmospheric & Aquatic Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>Materials Science Collection</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hendig, Doris</au><au>Schulz, Veronika</au><au>Arndt, Marius</au><au>Szliska, Christiane</au><au>Kleesiek, Knut</au><au>Gotting, Christian</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum</atitle><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle><addtitle>Clin Chem</addtitle><date>2006-02-01</date><risdate>2006</risdate><volume>52</volume><issue>2</issue><spage>227</spage><epage>234</epage><pages>227-234</pages><issn>0009-9147</issn><eissn>1530-8561</eissn><coden>CLCHAU</coden><abstract>Pseudoxanthoma elasticum (PXE) is a hereditary disorder of the connective tissue affecting the skin, retina, and cardiovascular system and characterized by progressive calcification of abnormal and fragmented elastic fibers in the extracellular matrix. The aim of the present study was to investigate the association of fetuin-A, a major systemic inhibitor of calcification, with PXE.
Fetuin-A was measured by quantitative sandwich enzyme immunoassay in sera from 110 German patients with PXE, 53 unaffected first-degree family members, and 80 healthy blood donors. We determined the distribution of the fetuin-A polymorphisms c.742C>T (p.T248M) and c.766C>G (p.T256S) in these same 3 groups. The occurrences of the frequent ABCC6 gene mutations c.3421C>T (p.R1141X) and c.EX23_EX29del were also assessed.
Serum fetuin-A concentrations in male and female PXE patients were lower than in unaffected first-degree relatives and controls [mean (SD) concentrations, 0.55 (0.11) g/L in patients; 0.70 (0.23) g/L in relatives; and 0.80 (0.23) g/L in controls (P <0.0001)]. Serum fetuin-A was higher in female PXE patients with cardiovascular involvement than in the corresponding male group (P <0.05). The fetuin-A polymorphism frequencies did not differ among PXE patients, family members, and blood donors.
A deficiency of multidrug resistance-associated protein 6 leads to alteration of circulating substrates, e.g., inhibitors of calcification as fetuin-A, leading to progressive mineralization of elastic fibers in PXE.</abstract><cop>Washington, DC</cop><pub>Am Assoc Clin Chem</pub><pmid>16384891</pmid><doi>10.1373/clinchem.2005.059253</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | alpha-2-HS-Glycoprotein Analytical, structural and metabolic biochemistry Biological and medical sciences Blood Blood & organ donations Blood Proteins - analysis Blood Proteins - genetics Blood Proteins - physiology Calcification Calcinosis - etiology Calcinosis - genetics Cardiovascular system Connective tissue DNA - analysis DNA Mutational Analysis Enzyme-Linked Immunosorbent Assay Extracellular matrix Female Fibers Fundamental and applied biological sciences. Psychology Genes Germany Glycoproteins Humans Investigative techniques, diagnostic techniques (general aspects) Male Males Medical sciences Metabolism Middle Aged Mineralization Multidrug Resistance-Associated Proteins - genetics Mutation Patients Pedigree Polymorphism, Restriction Fragment Length Proteins Pseudoxanthoma Elasticum - blood Pseudoxanthoma Elasticum - complications Pseudoxanthoma Elasticum - genetics Signal transduction |
| title | Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum |
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