What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration
Identifieur interne : 002543 ( Istex/Corpus ); précédent : 002542; suivant : 002544What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration
Auteurs : Me Ketelaar ; Rmw Hofstra ; Mr HaydenSource :
- Clinical Genetics [ 0009-9163 ] ; 2012-04.
English descriptors
Abstract
Ketelaar ME, Hofstra RMW, Hayden MR. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets.
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DOI: 10.1111/j.1399-0004.2011.01795.x
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ISTEX:5C833D48D8609F5EBFCD2AE28C065D871BC48848Le document en format XML
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What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>ME Ketelaar</name><affiliations><json:string>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</json:string><json:string>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</json:string></affiliations></json:item><json:item><name>RMW Hofstra</name><affiliations><json:string>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</json:string></affiliations></json:item><json:item><name>MR Hayden</name><affiliations><json:string>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</json:string><json:string>E-mail: mrh@cmmt.ubc.ca</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>disease discordance</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>epigenetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>monozygotic twins</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neurodegeneration</value></json:item></subject><articleId><json:string>CGE1795</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Ketelaar ME, Hofstra RMW, Hayden MR. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets.</abstract><qualityIndicators><score>7.22</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1363</abstractCharCount><pdfWordCount>6752</pdfWordCount><pdfCharCount>43016</pdfCharCount><pdfPageCount>9</pdfPageCount><abstractWordCount>185</abstractWordCount></qualityIndicators><title>What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration</title><genre><json:string>article</json:string></genre><host><title>Clinical 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neurodegeneration</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><p>© 2011 John Wiley & Sons A/S</p></availability><date>2012</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration</title><author xml:id="author-1"><persName><forename type="first">ME</forename><surname>Ketelaar</surname></persName><affiliation>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</affiliation><affiliation>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</affiliation></author><author xml:id="author-2"><persName><forename type="first">RMW</forename><surname>Hofstra</surname></persName><affiliation>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</affiliation></author><author xml:id="author-3"><persName><forename type="first">MR</forename><surname>Hayden</surname></persName><email>mrh@cmmt.ubc.ca</email><affiliation>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</affiliation></author></analytic><monogr><title level="j">Clinical Genetics</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="DOI">10.1111/(ISSN)1399-0004</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2012-04"></date><biblScope unit="volume">81</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="325">325</biblScope><biblScope unit="page" to="333">333</biblScope></imprint></monogr><idno type="istex">5C833D48D8609F5EBFCD2AE28C065D871BC48848</idno><idno type="DOI">10.1111/j.1399-0004.2011.01795.x</idno><idno type="ArticleID">CGE1795</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2012</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Ketelaar ME, Hofstra RMW, Hayden MR. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>keywords</head><item><term>disease discordance</term></item><item><term>epigenetics</term></item><item><term>genetics</term></item><item><term>monozygotic twins</term></item><item><term>neurodegeneration</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2012-04">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api-v5.istex.fr/document/5C833D48D8609F5EBFCD2AE28C065D871BC48848/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="04104"><doi origin="wiley">10.1111/cge.2012.81.issue-4</doi><numberingGroup><numbering type="journalVolume" number="81">81</numbering><numbering type="journalIssue" number="4">4</numbering></numberingGroup><coverDate startDate="2012-04">April 2012</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="4" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.2011.01795.x</doi><idGroup><id type="unit" value="CGE1795"></id></idGroup><countGroup><count type="pageTotal" number="9"></count></countGroup><titleGroup><title type="tocHeading1">REVIEWS</title></titleGroup><copyright>© 2011 John Wiley & Sons A/S</copyright><eventGroup><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:3.1.3 standalone mode:FullText" date="2012-03-14"></event><event type="publishedOnlineAccepted" date="2011-10-07"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-11-12"></event><event type="firstOnline" date="2011-11-12"></event><event type="publishedOnlineFinalForm" date="2012-03-14"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.3.4 mode:FullText" date="2015-02-25"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="325">325</numbering><numbering type="pageLast" number="333">333</numbering></numberingGroup><correspondenceTo>Michael R. Hayden, Centre for Molecular Medicine and Therapeutics, BC Children's and Women's Hospital, 980 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada.
Tel.: +1 (604) 875 3535;
fax: +1 (604) 875 3819;
e‐mail: <email>mrh@cmmt.ubc.ca</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE1795.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 26 June 2011, revised and accepted for publication 4 October 2011</unparsedEditorialHistory><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="68"></count></countGroup><titleGroup><title type="main">What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration</title><title type="shortAuthors">Ketelaar et al.</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1 #a2"><personName><givenNames>ME</givenNames><familyName>Ketelaar</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2"><personName><givenNames>RMW</givenNames><familyName>Hofstra</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1" corresponding="yes"><personName><givenNames>MR</givenNames><familyName>Hayden</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="CA"><unparsedAffiliation>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="NL"><unparsedAffiliation>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">disease discordance</keyword><keyword xml:id="k2">epigenetics</keyword><keyword xml:id="k3">genetics</keyword><keyword xml:id="k4">monozygotic twins</keyword><keyword xml:id="k5">neurodegeneration</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Ketelaar ME, Hofstra RMW, Hayden MR. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration.</p><p>As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic <i>vs</i> environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration</title></titleInfo><name type="personal"><namePart type="given">ME</namePart><namePart type="family">Ketelaar</namePart><affiliation>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</affiliation><affiliation>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">RMW</namePart><namePart type="family">Hofstra</namePart><affiliation>Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">MR</namePart><namePart type="family">Hayden</namePart><affiliation>Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada</affiliation><affiliation>E-mail: mrh@cmmt.ubc.ca</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2012-04</dateIssued><edition>Received 26 June 2011, revised and accepted for publication 4 October 2011</edition><copyrightDate encoding="w3cdtf">2012</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">1</extent><extent unit="references">68</extent></physicalDescription><abstract lang="en">Ketelaar ME, Hofstra RMW, Hayden MR. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ both genetically and epigenetically. Screening MZ twins for genetic and/or epigenetic differences could be a useful and novel approach to identify modifying factors influencing phenotypic expression of disease. MZ twins that are phenotypically discordant for monogenic diseases are of special interest. Such occurrences have been described for Huntington's disease, spinocerebellar ataxias, as well as for familial forms of Alzheimer's disease. By comparing MZ twins that are phenotypically discordant, crucial factors influencing the phenotypic expression of the disease could be identified, which may be of relevance for understanding disease pathogenesis and variability in disease phenotype. Overall, understanding the crucial factors in development of a neurodegenerative disorder will have relevance for predictive testing, preventive treatment and could help to identify novel therapeutic targets.</abstract><subject lang="en"><genre>keywords</genre><topic>disease discordance</topic><topic>epigenetics</topic><topic>genetics</topic><topic>monozygotic twins</topic><topic>neurodegeneration</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>2012</date><detail type="volume"><caption>vol.</caption><number>81</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>325</start><end>333</end><total>9</total></extent></part></relatedItem><identifier type="istex">5C833D48D8609F5EBFCD2AE28C065D871BC48848</identifier><identifier type="DOI">10.1111/j.1399-0004.2011.01795.x</identifier><identifier type="ArticleID">CGE1795</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2011 John Wiley & Sons A/S</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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