Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screen...
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| Veröffentlicht in: | Nature genetics 2001-06, Vol.28 (2), p.123-124 |
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| creator | Thompson, Debra A Li, Yun McHenry, Christina L Carlson, Thomas J Ding, Xiaoling Sieving, Paul A Apfelstedt-Sylla, Eckart Gal, Andreas |
| description | The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases. |
| doi_str_mv | 10.1038/88828 |
| format | Article |
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The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/88828</identifier><identifier>PMID: 11381255</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Acyltransferases - genetics ; Acyltransferases - metabolism ; Age of Onset ; Agriculture ; Animal Genetics and Genomics ; Animals ; Artificial chromosomes ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; brief-communication ; Cancer Research ; Cell Membrane - metabolism ; Classical genetics, quantitative genetics, hybrids ; COS Cells ; Dystrophy ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Function ; Gene mutations ; Genes, Recessive ; Genetic aspects ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Haplotypes ; Health aspects ; Human ; Human Genetics ; Humans ; lecithin retinol acyltransferase ; LRAT gene ; Male ; Medical sciences ; Metabolism ; Microsatellite Repeats ; Mutation ; Ophthalmology ; Patients ; Physiological aspects ; Point Mutation ; Polymorphism, Single-Stranded Conformational ; Publishing ; Retinal degeneration ; Retinal Degeneration - genetics ; retinal dystrophy ; Retinopathies ; Risk factors ; Transferases ; Vitamin A</subject><ispartof>Nature genetics, 2001-06, Vol.28 (2), p.123-124</ispartof><rights>Springer Nature America, Inc. 2001</rights><rights>2001 INIST-CNRS</rights><rights>COPYRIGHT 2001 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jun 2001</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c578t-4fe68c8e74ba7fa2fa97192e1dcac68bbbf3d04acd2fe00f2ce1cb54a042bdc3</citedby><cites>FETCH-LOGICAL-c578t-4fe68c8e74ba7fa2fa97192e1dcac68bbbf3d04acd2fe00f2ce1cb54a042bdc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/88828$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/88828$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,2727,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1057584$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11381255$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thompson, Debra A</creatorcontrib><creatorcontrib>Li, Yun</creatorcontrib><creatorcontrib>McHenry, Christina L</creatorcontrib><creatorcontrib>Carlson, Thomas J</creatorcontrib><creatorcontrib>Ding, Xiaoling</creatorcontrib><creatorcontrib>Sieving, Paul A</creatorcontrib><creatorcontrib>Apfelstedt-Sylla, Eckart</creatorcontrib><creatorcontrib>Gal, Andreas</creatorcontrib><title>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases.</description><subject>Acyltransferases - genetics</subject><subject>Acyltransferases - metabolism</subject><subject>Age of Onset</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Animals</subject><subject>Artificial chromosomes</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>brief-communication</subject><subject>Cancer Research</subject><subject>Cell Membrane - metabolism</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>COS Cells</subject><subject>Dystrophy</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genes, Recessive</subject><subject>Genetic aspects</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Haplotypes</subject><subject>Health aspects</subject><subject>Human</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>lecithin retinol acyltransferase</subject><subject>LRAT gene</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolism</subject><subject>Microsatellite Repeats</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Patients</subject><subject>Physiological aspects</subject><subject>Point Mutation</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Publishing</subject><subject>Retinal degeneration</subject><subject>Retinal Degeneration - genetics</subject><subject>retinal dystrophy</subject><subject>Retinopathies</subject><subject>Risk factors</subject><subject>Transferases</subject><subject>Vitamin A</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0m1r1TAUB_Aiiptzn0CQ4CO-6EzatElfjuHDYDLQ4dtymp7cm9GbXJNU129v7nrxeoeolNLS8zun7Z-TZceMnjBayrdSykLeyw5ZxeucCSbvp3tas5zTsj7IHoVwTSnjnMqH2QFjpWRFVR1mN5_GCNE4G4ixJC6RLNAiQatcb-yCDKhMXKaSx2isGwioaYgebNDoISABn84QnDIQsSc_kiYIfpjyNBMjCfgdE7lth4H0U4jerZfT4-yBhiHg8fZ6lF29f3d19jG_uPxwfnZ6katKyJhzjbVUEgXvQGgoNDSCNQWyXoGqZdd1uuwpB9UXGinVhUKmuooD5UXXq_Ioez2PXXv3bcQQ25UJCocBLLoxtLLmTUVTFEm--qsUVDZ1ivCfkImGCtrQBJ_dgddu9CmF0BZFUXPeNGVCz2e0gAFbY7VL6arNxPaUyZKXtRCbjzv5g0pHjyujnEVt0vO9hjd7DclEvIkLGENoz798_n97-XXfvpyt8i4Ej7pde7MCP7WMtptFbG8XMbmn238fuxX2O7XdvARebAEEBYNOK6VM-G1aJSrJd2GHVLEL9LsM777wyQwtxNHjr0Fz9SeNyvlR</recordid><startdate>20010601</startdate><enddate>20010601</enddate><creator>Thompson, Debra A</creator><creator>Li, Yun</creator><creator>McHenry, Christina L</creator><creator>Carlson, Thomas J</creator><creator>Ding, Xiaoling</creator><creator>Sieving, Paul A</creator><creator>Apfelstedt-Sylla, Eckart</creator><creator>Gal, Andreas</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20010601</creationdate><title>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy</title><author>Thompson, Debra A ; Li, Yun ; McHenry, Christina L ; Carlson, Thomas J ; Ding, Xiaoling ; Sieving, Paul A ; Apfelstedt-Sylla, Eckart ; Gal, Andreas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c578t-4fe68c8e74ba7fa2fa97192e1dcac68bbbf3d04acd2fe00f2ce1cb54a042bdc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Acyltransferases - genetics</topic><topic>Acyltransferases - metabolism</topic><topic>Age of Onset</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Animals</topic><topic>Artificial chromosomes</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>brief-communication</topic><topic>Cancer Research</topic><topic>Cell Membrane - metabolism</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>COS Cells</topic><topic>Dystrophy</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. 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Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thompson, Debra A</au><au>Li, Yun</au><au>McHenry, Christina L</au><au>Carlson, Thomas J</au><au>Ding, Xiaoling</au><au>Sieving, Paul A</au><au>Apfelstedt-Sylla, Eckart</au><au>Gal, Andreas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2001-06-01</date><risdate>2001</risdate><volume>28</volume><issue>2</issue><spage>123</spage><epage>124</epage><pages>123-124</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>11381255</pmid><doi>10.1038/88828</doi><tpages>2</tpages></addata></record> |
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| subjects | Acyltransferases - genetics Acyltransferases - metabolism Age of Onset Agriculture Animal Genetics and Genomics Animals Artificial chromosomes Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cell Membrane - metabolism Classical genetics, quantitative genetics, hybrids COS Cells Dystrophy Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genes, Recessive Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Health aspects Human Human Genetics Humans lecithin retinol acyltransferase LRAT gene Male Medical sciences Metabolism Microsatellite Repeats Mutation Ophthalmology Patients Physiological aspects Point Mutation Polymorphism, Single-Stranded Conformational Publishing Retinal degeneration Retinal Degeneration - genetics retinal dystrophy Retinopathies Risk factors Transferases Vitamin A |
| title | Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy |
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