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HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family
Background Lipoprotein lipase (LPL) deficiency is a rare autosomal recessively inherited disease characterized by elevated triglyceride, low total cholesterol and quantitative and qualitative alterations of high‐density lipoprotein (HDL). The aim of the present study was to explore HDL metabolic ac...
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| Published in: | European journal of clinical investigation 2004-07, Vol.34 (7), p.467-474 |
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| container_end_page | 474 |
| container_issue | 7 |
| container_start_page | 467 |
| container_title | European journal of clinical investigation |
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| creator | Brites, F. Verona, J. Fernández, K. Henriksen, F. Fruchart, J. Cesar, M. Castro, G. Wikinski, R. |
| description | Background Lipoprotein lipase (LPL) deficiency is a rare autosomal recessively inherited disease characterized by elevated triglyceride, low total cholesterol and quantitative and qualitative alterations of high‐density lipoprotein (HDL). The aim of the present study was to explore HDL metabolic activities in a patient with LPL deficiency and in his family (n = 11).
Materials and methods Subjects were divided into four groups: proband (Ser447Stop/Arg170Leu carrier), Ser447Stop carriers, Arg170Leu carriers and silent mutation/wild‐type carriers (controls). Cholesterol efflux from Fu5AH cells, lecithin:cholesterol acyltransferase (LCAT), cholesteryl ester transfer protein (CETP), paraoxonase 1 (PON1) and platelet‐activating factor acetylhydrolase (PAF‐AH) activities were evaluated.
Results Comparison between the proband and the control group revealed that the boy had significantly reduced cholesterol efflux (P 0·05) and increased CETP activity (P |
| doi_str_mv | 10.1111/j.1365-2362.2004.01360.x |
| format | article |
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Materials and methods Subjects were divided into four groups: proband (Ser447Stop/Arg170Leu carrier), Ser447Stop carriers, Arg170Leu carriers and silent mutation/wild‐type carriers (controls). Cholesterol efflux from Fu5AH cells, lecithin:cholesterol acyltransferase (LCAT), cholesteryl ester transfer protein (CETP), paraoxonase 1 (PON1) and platelet‐activating factor acetylhydrolase (PAF‐AH) activities were evaluated.
Results Comparison between the proband and the control group revealed that the boy had significantly reduced cholesterol efflux (P < 0·001), conserved LCAT activity (P > 0·05) and increased CETP activity (P < 0·001). As regards antioxidant enzymes, while PON1 activity was higher in the proband than in the controls (P < 0·0001), PAF‐AH activity was reduced (P < 0·05). The other groups did not show relevant differences in comparison with controls.
Conclusions The presence of one mutation was not enough to introduce important modifications in HDL functions. Markedly reduced HDL levels can keep certain normal enzymatic activities, which probably tend to counteract the deleterious effects of LPL deficiency.</description><identifier>ISSN: 0014-2972</identifier><identifier>EISSN: 1365-2362</identifier><identifier>DOI: 10.1111/j.1365-2362.2004.01360.x</identifier><identifier>PMID: 15255783</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>Apolipoprotein A-I - metabolism ; Apolipoprotein A-II - metabolism ; Aryldialkylphosphatase - metabolism ; Biological and medical sciences ; Carrier Proteins - metabolism ; Child, Preschool ; Cholesterol Ester Transfer Proteins ; Cholesterol, HDL - metabolism ; Errors of metabolism ; Female ; General aspects ; Glycoproteins - metabolism ; Heterozygote ; Humans ; Hypertriglyceridaemia ; hypoalphalipoproteinaemia ; Lipids (lysosomal enzyme disorders, storage diseases) ; Lipoprotein Lipase - deficiency ; Lipoprotein Lipase - genetics ; Male ; Medical sciences ; Metabolic diseases ; paraoxonase 1 ; Pedigree ; platelet-activating factor acetylhydrolase ; reverse cholesterol transport ; two-dimensional electrophoresis</subject><ispartof>European journal of clinical investigation, 2004-07, Vol.34 (7), p.467-474</ispartof><rights>2004 INIST-CNRS</rights><rights>Copyright Blackwell Scientific Publications Ltd. Jul 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4600-52e82f1f7561d86797bd663d60716b89e80565113bf889d19e7cc8c32f4897ab3</citedby><cites>FETCH-LOGICAL-c4600-52e82f1f7561d86797bd663d60716b89e80565113bf889d19e7cc8c32f4897ab3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15958261$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15255783$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brites, F.</creatorcontrib><creatorcontrib>Verona, J.</creatorcontrib><creatorcontrib>Fernández, K.</creatorcontrib><creatorcontrib>Henriksen, F.</creatorcontrib><creatorcontrib>Fruchart, J.</creatorcontrib><creatorcontrib>Cesar, M.</creatorcontrib><creatorcontrib>Castro, G.</creatorcontrib><creatorcontrib>Wikinski, R.</creatorcontrib><title>HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family</title><title>European journal of clinical investigation</title><addtitle>Eur J Clin Invest</addtitle><description>Background Lipoprotein lipase (LPL) deficiency is a rare autosomal recessively inherited disease characterized by elevated triglyceride, low total cholesterol and quantitative and qualitative alterations of high‐density lipoprotein (HDL). The aim of the present study was to explore HDL metabolic activities in a patient with LPL deficiency and in his family (n = 11).
Materials and methods Subjects were divided into four groups: proband (Ser447Stop/Arg170Leu carrier), Ser447Stop carriers, Arg170Leu carriers and silent mutation/wild‐type carriers (controls). Cholesterol efflux from Fu5AH cells, lecithin:cholesterol acyltransferase (LCAT), cholesteryl ester transfer protein (CETP), paraoxonase 1 (PON1) and platelet‐activating factor acetylhydrolase (PAF‐AH) activities were evaluated.
Results Comparison between the proband and the control group revealed that the boy had significantly reduced cholesterol efflux (P < 0·001), conserved LCAT activity (P > 0·05) and increased CETP activity (P < 0·001). As regards antioxidant enzymes, while PON1 activity was higher in the proband than in the controls (P < 0·0001), PAF‐AH activity was reduced (P < 0·05). The other groups did not show relevant differences in comparison with controls.
Conclusions The presence of one mutation was not enough to introduce important modifications in HDL functions. Markedly reduced HDL levels can keep certain normal enzymatic activities, which probably tend to counteract the deleterious effects of LPL deficiency.</description><subject>Apolipoprotein A-I - metabolism</subject><subject>Apolipoprotein A-II - metabolism</subject><subject>Aryldialkylphosphatase - metabolism</subject><subject>Biological and medical sciences</subject><subject>Carrier Proteins - metabolism</subject><subject>Child, Preschool</subject><subject>Cholesterol Ester Transfer Proteins</subject><subject>Cholesterol, HDL - metabolism</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>General aspects</subject><subject>Glycoproteins - metabolism</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hypertriglyceridaemia</subject><subject>hypoalphalipoproteinaemia</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Lipoprotein Lipase - deficiency</subject><subject>Lipoprotein Lipase - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>paraoxonase 1</subject><subject>Pedigree</subject><subject>platelet-activating factor acetylhydrolase</subject><subject>reverse cholesterol transport</subject><subject>two-dimensional electrophoresis</subject><issn>0014-2972</issn><issn>1365-2362</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNqNkEtv1DAURi0EokPLX0AWEt0l-NrxIwsWMH2iUSkCxNJyHFv1kMcQZ-jk39dhRgWxwhvfa5_v6uoghIHkkM7bdQ5M8IwyQXNKSJGT1JN89wQtHj-eogUhUGS0lPQIvYhxTQhRwOhzdAScci4VW6AvV2cr3LrRVH0TLDZ2DL_CGFzEocMGV_2E78N4h5uw6TdDP7r0nGoTHa6dDza4zk7YdDW-CxF704ZmOkHPvGmie3m4j9G3i_Ovy6ts9enyevl-ldlCEJJx6hT14CUXUCshS1nVQrBaEAmiUqVThAsOwCqvVFlD6aS1yjLqC1VKU7FjdLqfmxb7uXVx1G2I1jWN6Vy_jVoICUBBJfD1P-C63w5d2k1DWQItKBQJUnvIDn2Mg_N6M4TWDJMGomfreq1nuXqWq2fr-rd1vUvRV4f526p19Z_gQXMC3hwAE61p_GA6G-JfXMkVFZC4d3vuPjRu-u8F9Pnyeq5SPtvnQxzd7jFvhh9aSCa5_n5zqWElPtx8_Az6lj0AOGCqIg</recordid><startdate>200407</startdate><enddate>200407</enddate><creator>Brites, F.</creator><creator>Verona, J.</creator><creator>Fernández, K.</creator><creator>Henriksen, F.</creator><creator>Fruchart, J.</creator><creator>Cesar, M.</creator><creator>Castro, G.</creator><creator>Wikinski, R.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><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>7QO</scope><scope>7U7</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>200407</creationdate><title>HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family</title><author>Brites, F. ; Verona, J. ; Fernández, K. ; Henriksen, F. ; Fruchart, J. ; Cesar, M. ; Castro, G. ; Wikinski, R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4600-52e82f1f7561d86797bd663d60716b89e80565113bf889d19e7cc8c32f4897ab3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Apolipoprotein A-I - metabolism</topic><topic>Apolipoprotein A-II - metabolism</topic><topic>Aryldialkylphosphatase - metabolism</topic><topic>Biological and medical sciences</topic><topic>Carrier Proteins - metabolism</topic><topic>Child, Preschool</topic><topic>Cholesterol Ester Transfer Proteins</topic><topic>Cholesterol, HDL - metabolism</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>General aspects</topic><topic>Glycoproteins - metabolism</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hypertriglyceridaemia</topic><topic>hypoalphalipoproteinaemia</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Lipoprotein Lipase - deficiency</topic><topic>Lipoprotein Lipase - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>paraoxonase 1</topic><topic>Pedigree</topic><topic>platelet-activating factor acetylhydrolase</topic><topic>reverse cholesterol transport</topic><topic>two-dimensional electrophoresis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brites, F.</creatorcontrib><creatorcontrib>Verona, J.</creatorcontrib><creatorcontrib>Fernández, K.</creatorcontrib><creatorcontrib>Henriksen, F.</creatorcontrib><creatorcontrib>Fruchart, J.</creatorcontrib><creatorcontrib>Cesar, M.</creatorcontrib><creatorcontrib>Castro, G.</creatorcontrib><creatorcontrib>Wikinski, R.</creatorcontrib><collection>Istex</collection><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>Biotechnology Research Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of clinical investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brites, F.</au><au>Verona, J.</au><au>Fernández, K.</au><au>Henriksen, F.</au><au>Fruchart, J.</au><au>Cesar, M.</au><au>Castro, G.</au><au>Wikinski, R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family</atitle><jtitle>European journal of clinical investigation</jtitle><addtitle>Eur J Clin Invest</addtitle><date>2004-07</date><risdate>2004</risdate><volume>34</volume><issue>7</issue><spage>467</spage><epage>474</epage><pages>467-474</pages><issn>0014-2972</issn><eissn>1365-2362</eissn><abstract>Background Lipoprotein lipase (LPL) deficiency is a rare autosomal recessively inherited disease characterized by elevated triglyceride, low total cholesterol and quantitative and qualitative alterations of high‐density lipoprotein (HDL). The aim of the present study was to explore HDL metabolic activities in a patient with LPL deficiency and in his family (n = 11).
Materials and methods Subjects were divided into four groups: proband (Ser447Stop/Arg170Leu carrier), Ser447Stop carriers, Arg170Leu carriers and silent mutation/wild‐type carriers (controls). Cholesterol efflux from Fu5AH cells, lecithin:cholesterol acyltransferase (LCAT), cholesteryl ester transfer protein (CETP), paraoxonase 1 (PON1) and platelet‐activating factor acetylhydrolase (PAF‐AH) activities were evaluated.
Results Comparison between the proband and the control group revealed that the boy had significantly reduced cholesterol efflux (P < 0·001), conserved LCAT activity (P > 0·05) and increased CETP activity (P < 0·001). As regards antioxidant enzymes, while PON1 activity was higher in the proband than in the controls (P < 0·0001), PAF‐AH activity was reduced (P < 0·05). The other groups did not show relevant differences in comparison with controls.
Conclusions The presence of one mutation was not enough to introduce important modifications in HDL functions. Markedly reduced HDL levels can keep certain normal enzymatic activities, which probably tend to counteract the deleterious effects of LPL deficiency.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>15255783</pmid><doi>10.1111/j.1365-2362.2004.01360.x</doi><tpages>8</tpages></addata></record> |
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| ispartof | European journal of clinical investigation, 2004-07, Vol.34 (7), p.467-474 |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Apolipoprotein A-I - metabolism Apolipoprotein A-II - metabolism Aryldialkylphosphatase - metabolism Biological and medical sciences Carrier Proteins - metabolism Child, Preschool Cholesterol Ester Transfer Proteins Cholesterol, HDL - metabolism Errors of metabolism Female General aspects Glycoproteins - metabolism Heterozygote Humans Hypertriglyceridaemia hypoalphalipoproteinaemia Lipids (lysosomal enzyme disorders, storage diseases) Lipoprotein Lipase - deficiency Lipoprotein Lipase - genetics Male Medical sciences Metabolic diseases paraoxonase 1 Pedigree platelet-activating factor acetylhydrolase reverse cholesterol transport two-dimensional electrophoresis |
| title | HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family |
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