6 Gaucher's disease: the best laid schemes of mice and men
Identifieur interne : 002A51 ( Main/Corpus ); précédent : 002A50; suivant : 002A526 Gaucher's disease: the best laid schemes of mice and men
Auteurs : Ellen Sidransky ; Edward I. GinnsSource :
- Bailliere's Clinical Haematology [ 0950-3536 ] ; 1997.
English descriptors
- KwdEn :
Abstract
The creation of animal models of Gaucher's disease, the inherited deficiency of the enzyme glucocerebrosidase, has led to new clinical insights and to a new appreciation of the complexity of the glucocerebrosidase gene locus. Murine embryonic stem cells with targeted modifications in the glucocerebrosidase gene were used to generate mouse models of Gaucher's disease, the first having a null glucocerebrosidase allele. The resulting knockout mice have no glucocerebrosidase activity and die within 12 hours of birth. Ultrastructural studies of liver, spleen, brain and bone marrow demonstrate the characteristic storage material seen in Gaucher patients. In the nervous system, storage of lipid increased in a rostral-caudal distribution. Analysis of skin from the knockout mice revealed histological, ultrastructural and biochemical abnormalities. The null allele Gaucher mice are analogous to neonates with Type 2 Gaucher's disease who present with hydrops foetalis and/or congenital ichthyosis. Moreover, the epidermal changes seen in Type 2 mice are also found in Type 2 patients and may provide a means to presymptomatically discriminate Type 2 from Type 1 and 3 Gaucher's disease. Another targeted modification in the murine glucocerebrosidase gene locus led to the discovery of a contiguous gene, metaxin. Closer analysis of the glucocerebrosidase gene locus, including sequencing of 75 kb of genomic DNA, reveals that this is a gene-rich region coding for seven genes and two pseudogenes. Further study of these closely arrayed genes may contribute to our understanding of the clinical variation encountered among patients with Gaucher's disease.
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DOI: 10.1016/S0950-3536(97)80036-4
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Murine embryonic stem cells with targeted modifications in the glucocerebrosidase gene were used to generate mouse models of Gaucher's disease, the first having a null glucocerebrosidase allele. The resulting knockout mice have no glucocerebrosidase activity and die within 12 hours of birth. Ultrastructural studies of liver, spleen, brain and bone marrow demonstrate the characteristic storage material seen in Gaucher patients. In the nervous system, storage of lipid increased in a rostral-caudal distribution. Analysis of skin from the knockout mice revealed histological, ultrastructural and biochemical abnormalities. The null allele Gaucher mice are analogous to neonates with Type 2 Gaucher's disease who present with hydrops foetalis and/or congenital ichthyosis. Moreover, the epidermal changes seen in Type 2 mice are also found in Type 2 patients and may provide a means to presymptomatically discriminate Type 2 from Type 1 and 3 Gaucher's disease. Another targeted modification in the murine glucocerebrosidase gene locus led to the discovery of a contiguous gene, metaxin. Closer analysis of the glucocerebrosidase gene locus, including sequencing of 75 kb of genomic DNA, reveals that this is a gene-rich region coding for seven genes and two pseudogenes. Further study of these closely arrayed genes may contribute to our understanding of the clinical variation encountered among patients with Gaucher's disease.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>Ellen Sidransky MD</name><affiliations><json:string>Clinical Neuroscience Branch, National Institute of Mental Health, NIH, Building 49, Room BIEE16, 49 Convent Drive MSC 4405, Bethesda, MA 20892-4405, USA</json:string></affiliations></json:item><json:item><name>Edward I. Ginns MD, PhD</name><affiliations><json:string>Clinical Neuroscience Branch, National Institute of Mental Health, NIH, Building 49, Room BIEE16, 49 Convent Drive MSC 4405, Bethesda, MA 20892-4405, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Gaucher's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>glucocerebrosidase</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>murine</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>knockout models</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>epidermal</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>metaxin</value></json:item></subject><articleId><json:string>97800364</json:string></articleId><language><json:string>eng</json:string></language><abstract>The creation of animal models of Gaucher's disease, the inherited deficiency of the enzyme glucocerebrosidase, has led to new clinical insights and to a new appreciation of the complexity of the glucocerebrosidase gene locus. Murine embryonic stem cells with targeted modifications in the glucocerebrosidase gene were used to generate mouse models of Gaucher's disease, the first having a null glucocerebrosidase allele. The resulting knockout mice have no glucocerebrosidase activity and die within 12 hours of birth. Ultrastructural studies of liver, spleen, brain and bone marrow demonstrate the characteristic storage material seen in Gaucher patients. In the nervous system, storage of lipid increased in a rostral-caudal distribution. Analysis of skin from the knockout mice revealed histological, ultrastructural and biochemical abnormalities. The null allele Gaucher mice are analogous to neonates with Type 2 Gaucher's disease who present with hydrops foetalis and/or congenital ichthyosis. Moreover, the epidermal changes seen in Type 2 mice are also found in Type 2 patients and may provide a means to presymptomatically discriminate Type 2 from Type 1 and 3 Gaucher's disease. Another targeted modification in the murine glucocerebrosidase gene locus led to the discovery of a contiguous gene, metaxin. Closer analysis of the glucocerebrosidase gene locus, including sequencing of 75 kb of genomic DNA, reveals that this is a gene-rich region coding for seven genes and two pseudogenes. 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Murine embryonic stem cells with targeted modifications in the glucocerebrosidase gene were used to generate mouse models of Gaucher's disease, the first having a null glucocerebrosidase allele. The resulting knockout mice have no glucocerebrosidase activity and die within 12 hours of birth. Ultrastructural studies of liver, spleen, brain and bone marrow demonstrate the characteristic storage material seen in Gaucher patients. In the nervous system, storage of lipid increased in a rostral-caudal distribution. Analysis of skin from the knockout mice revealed histological, ultrastructural and biochemical abnormalities. The null allele Gaucher mice are analogous to neonates with Type 2 Gaucher's disease who present with hydrops foetalis and/or congenital ichthyosis. Moreover, the epidermal changes seen in Type 2 mice are also found in Type 2 patients and may provide a means to presymptomatically discriminate Type 2 from Type 1 and 3 Gaucher's disease. Another targeted modification in the murine glucocerebrosidase gene locus led to the discovery of a contiguous gene, metaxin. Closer analysis of the glucocerebrosidase gene locus, including sequencing of 75 kb of genomic DNA, reveals that this is a gene-rich region coding for seven genes and two pseudogenes. Further study of these closely arrayed genes may contribute to our understanding of the clinical variation encountered among patients with Gaucher's disease.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Key words</head><item><term>Gaucher's disease</term></item><item><term>glucocerebrosidase</term></item><item><term>murine</term></item><item><term>knockout models</term></item><item><term>epidermal</term></item><item><term>metaxin</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1997">Published</change></revisionDesc></teiHeader></istex:fulltextTEI></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.0.1//EN//XML" URI="art501.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.0" xml:lang="en" docsubtype="fla"><item-info><jid>BACH</jid><aid>97800364</aid><ce:pii>S0950-3536(97)80036-4</ce:pii><ce:doi>10.1016/S0950-3536(97)80036-4</ce:doi><ce:copyright type="unknown" year="1997">W B Saunders Company Ltd. All rights reserved</ce:copyright></item-info><head><ce:title>6 Gaucher's disease: the best laid schemes of mice and men</ce:title><ce:author-group><ce:author><ce:degrees>MD</ce:degrees><ce:given-name>Ellen</ce:given-name><ce:surname>Sidransky</ce:surname><ce:roles>Chief, Unit of Clinical Genetics</ce:roles></ce:author><ce:author><ce:degrees>MD, PhD</ce:degrees><ce:given-name>Edward I.</ce:given-name><ce:surname>Ginns</ce:surname><ce:roles>Chief, Clinical Neuroscience Branch</ce:roles></ce:author><ce:affiliation id="aff1"><ce:textfn>Clinical Neuroscience Branch, National Institute of Mental Health, NIH, Building 49, Room BIEE16, 49 Convent Drive MSC 4405, Bethesda, MA 20892-4405, USA</ce:textfn></ce:affiliation></ce:author-group><ce:abstract id="ab1" class="author" xml:lang="en"><ce:abstract-sec><ce:simple-para>The creation of animal models of Gaucher's disease, the inherited deficiency of the enzyme glucocerebrosidase, has led to new clinical insights and to a new appreciation of the complexity of the glucocerebrosidase gene locus. Murine embryonic stem cells with targeted modifications in the glucocerebrosidase gene were used to generate mouse models of Gaucher's disease, the first having a null glucocerebrosidase allele. The resulting knockout mice have no glucocerebrosidase activity and die within 12 hours of birth. Ultrastructural studies of liver, spleen, brain and bone marrow demonstrate the characteristic storage material seen in Gaucher patients. In the nervous system, storage of lipid increased in a rostral-caudal distribution. Analysis of skin from the knockout mice revealed histological, ultrastructural and biochemical abnormalities. The null allele Gaucher mice are analogous to neonates with Type 2 Gaucher's disease who present with hydrops foetalis and/or congenital ichthyosis. Moreover, the epidermal changes seen in Type 2 mice are also found in Type 2 patients and may provide a means to presymptomatically discriminate Type 2 from Type 1 and 3 Gaucher's disease. Another targeted modification in the murine glucocerebrosidase gene locus led to the discovery of a contiguous gene, metaxin. Closer analysis of the glucocerebrosidase gene locus, including sequencing of 75 kb of genomic DNA, reveals that this is a gene-rich region coding for seven genes and two pseudogenes. Further study of these closely arrayed genes may contribute to our understanding of the clinical variation encountered among patients with Gaucher's disease.</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords class="keyword" xml:lang="en"><ce:section-title>Key words</ce:section-title><ce:keyword><ce:text>Gaucher's disease</ce:text></ce:keyword><ce:keyword><ce:text>glucocerebrosidase</ce:text></ce:keyword><ce:keyword><ce:text>murine</ce:text></ce:keyword><ce:keyword><ce:text>knockout models</ce:text></ce:keyword><ce:keyword><ce:text>epidermal</ce:text></ce:keyword><ce:keyword><ce:text>metaxin</ce:text></ce:keyword></ce:keywords></head><tail><ce:bibliography><ce:section-title>References</ce:section-title><ce:bibliography-sec><ce:bib-reference id="bib1"><ce:label>Abrahamov, et al, 1995</ce:label><sb:reference><sb:contribution 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Genetics</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Edward I.</namePart><namePart type="family">Ginns</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Clinical Neuroscience Branch, National Institute of Mental Health, NIH, Building 49, Room BIEE16, 49 Convent Drive MSC 4405, Bethesda, MA 20892-4405, USA</affiliation><description>Chief, Clinical Neuroscience Branch</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1997</dateIssued><copyrightDate encoding="w3cdtf">1997</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">The creation of animal models of Gaucher's disease, the inherited deficiency of the enzyme glucocerebrosidase, has led to new clinical insights and to a new appreciation of the complexity of the glucocerebrosidase gene locus. Murine embryonic stem cells with targeted modifications in the glucocerebrosidase gene were used to generate mouse models of Gaucher's disease, the first having a null glucocerebrosidase allele. The resulting knockout mice have no glucocerebrosidase activity and die within 12 hours of birth. Ultrastructural studies of liver, spleen, brain and bone marrow demonstrate the characteristic storage material seen in Gaucher patients. In the nervous system, storage of lipid increased in a rostral-caudal distribution. Analysis of skin from the knockout mice revealed histological, ultrastructural and biochemical abnormalities. The null allele Gaucher mice are analogous to neonates with Type 2 Gaucher's disease who present with hydrops foetalis and/or congenital ichthyosis. Moreover, the epidermal changes seen in Type 2 mice are also found in Type 2 patients and may provide a means to presymptomatically discriminate Type 2 from Type 1 and 3 Gaucher's disease. Another targeted modification in the murine glucocerebrosidase gene locus led to the discovery of a contiguous gene, metaxin. Closer analysis of the glucocerebrosidase gene locus, including sequencing of 75 kb of genomic DNA, reveals that this is a gene-rich region coding for seven genes and two pseudogenes. Further study of these closely arrayed genes may contribute to our understanding of the clinical variation encountered among patients with Gaucher's disease.</abstract><subject lang="en"><genre>Key words</genre><topic>Gaucher's disease</topic><topic>glucocerebrosidase</topic><topic>murine</topic><topic>knockout models</topic><topic>epidermal</topic><topic>metaxin</topic></subject><relatedItem type="host"><titleInfo><title>Bailliere's Clinical Haematology</title></titleInfo><titleInfo type="abbreviated"><title>BACH</title></titleInfo><genre type="Journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">199712</dateIssued></originInfo><identifier type="ISSN">0950-3536</identifier><identifier type="PII">S0950-3536(97)X8030-8</identifier><part><detail type="issue"><title>Gaucher's Disease</title></detail><detail type="volume"><number>10</number><caption>vol.</caption></detail><detail type="issue"><number>4</number><caption>no.</caption></detail><extent unit="issue pages"><start>621</start><end>846</end></extent><extent unit="pages"><start>725</start><end>737</end></extent></part></relatedItem><identifier type="istex">67018BCD09205A894B9B9F53CB7CF4EF90289D04</identifier><identifier type="DOI">10.1016/S0950-3536(97)80036-4</identifier><identifier type="PII">S0950-3536(97)80036-4</identifier><identifier type="ArticleID">97800364</identifier><accessCondition type="use and reproduction" contentType="">© 1997W B Saunders Company Ltd. 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