Lesch‐Nyhan disease as a model for central nervous system directed gene therapy
Identifieur interne : 000A16 ( Istex/Corpus ); précédent : 000A15; suivant : 000A17Lesch‐Nyhan disease as a model for central nervous system directed gene therapy
Auteurs : Theodore FriedmannSource :
- Mental Retardation and Developmental Disabilities Research Reviews [ 1080-4013 ] ; 1995.
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Abstract
As a model disease for the development of suitable gene transfer techniques and their physiological and neurological testing, Lesch‐Nyhan syndrome (LNS) provides important advantages, including the availability of a well‐characterized genetic defect and candidate metabolic targets, as well as a relevant animal model and appropriate gene transfer vectors. On the other hand, the serious gap between the level of characterization of the underlying genetic defects and the resulting neuropathological effects is one of several major impediments to the development of gene therapy. However, the dopamine defect that occurs in LNS may be much more amenable to genetic manipulation than is the deficiency of hypoxanthine guanine phosphoribosyltransferase. A genetic approach to the correction of this intermediate biochemical aberration, which probably is responsible for at least some neurological signs and symptoms of LNS, may be within reach of even the currently imperfect tools of gene therapy. Exploration of this possibility, along with other studies, is likely to lead, slowly but surely, to definition of the conditions under which the genetic and neurophysiological aberrations of LNS will be susceptible to a degree of correction that is not possible by drug therapy alone. © 1995 Wiley‐Liss, Inc.
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DOI: 10.1002/mrdd.1410010110
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ISTEX:A63813294B873505918669AB9E40E2CBEF1FEF08Le document en format XML
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Retard. Dev. Disabil. Res. Rev.</title><idno type="ISSN">1080-4013</idno><idno type="eISSN">1098-2779</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1995">1995</date><biblScope unit="volume">1</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="49">49</biblScope><biblScope unit="page" to="55">55</biblScope></imprint><idno type="ISSN">1080-4013</idno></series><idno type="istex">A63813294B873505918669AB9E40E2CBEF1FEF08</idno><idno type="DOI">10.1002/mrdd.1410010110</idno><idno type="ArticleID">MRDD1410010110</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1080-4013</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>HPRT</term><term>Lesch‐Nyhan</term><term>dopamine</term><term>gene therapy</term><term>viral vectors</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">As a model disease for the development of suitable gene transfer techniques and their physiological and neurological testing, Lesch‐Nyhan syndrome (LNS) provides important advantages, including the availability of a well‐characterized genetic defect and candidate metabolic targets, as well as a relevant animal model and appropriate gene transfer vectors. On the other hand, the serious gap between the level of characterization of the underlying genetic defects and the resulting neuropathological effects is one of several major impediments to the development of gene therapy. However, the dopamine defect that occurs in LNS may be much more amenable to genetic manipulation than is the deficiency of hypoxanthine guanine phosphoribosyltransferase. A genetic approach to the correction of this intermediate biochemical aberration, which probably is responsible for at least some neurological signs and symptoms of LNS, may be within reach of even the currently imperfect tools of gene therapy. Exploration of this possibility, along with other studies, is likely to lead, slowly but surely, to definition of the conditions under which the genetic and neurophysiological aberrations of LNS will be susceptible to a degree of correction that is not possible by drug therapy alone. © 1995 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Theodore Friedmann MD</name><affiliations><json:string>Center for Molecular Genetics and Department of Pediatrics, School of Medicine, University of California at San Diego, La Jolla, California</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>gene therapy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Lesch‐Nyhan</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>HPRT</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>viral vectors</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dopamine</value></json:item></subject><language><json:string>eng</json:string></language><abstract>As a model disease for the development of suitable gene transfer techniques and their physiological and neurological testing, Lesch‐Nyhan syndrome (LNS) provides important advantages, including the availability of a well‐characterized genetic defect and candidate metabolic targets, as well as a relevant animal model and appropriate gene transfer vectors. 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On the other hand, the serious gap between the level of characterization of the underlying genetic defects and the resulting neuropathological effects is one of several major impediments to the development of gene therapy. However, the dopamine defect that occurs in LNS may be much more amenable to genetic manipulation than is the deficiency of hypoxanthine guanine phosphoribosyltransferase. A genetic approach to the correction of this intermediate biochemical aberration, which probably is responsible for at least some neurological signs and symptoms of LNS, may be within reach of even the currently imperfect tools of gene therapy. Exploration of this possibility, along with other studies, is likely to lead, slowly but surely, to definition of the conditions under which the genetic and neurophysiological aberrations of LNS will be susceptible to a degree of correction that is not possible by drug therapy alone. © 1995 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Lesch‐Nyhan disease as a model for central nervous system directed gene therapy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>CNS Gene Therapy: The Lesch‐Nyhan Model</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Lesch‐Nyhan disease as a model for central nervous system directed gene therapy</title></titleInfo><name type="personal"><namePart type="given">Theodore</namePart><namePart type="family">Friedmann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Molecular Genetics and Department of Pediatrics, School of Medicine, University of California at San Diego, La Jolla, California</affiliation><description>Correspondence: Center for Molecular Genetics and Department of Pediatrics, UCSD School of Medicine 0634, LaJolla, CA 92093</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1995</dateIssued><copyrightDate encoding="w3cdtf">1995</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="references">60</extent></physicalDescription><abstract lang="en">As a model disease for the development of suitable gene transfer techniques and their physiological and neurological testing, Lesch‐Nyhan syndrome (LNS) provides important advantages, including the availability of a well‐characterized genetic defect and candidate metabolic targets, as well as a relevant animal model and appropriate gene transfer vectors. 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Exploration of this possibility, along with other studies, is likely to lead, slowly but surely, to definition of the conditions under which the genetic and neurophysiological aberrations of LNS will be susceptible to a degree of correction that is not possible by drug therapy alone. © 1995 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>Keywords</genre><topic>gene therapy</topic><topic>Lesch‐Nyhan</topic><topic>HPRT</topic><topic>viral vectors</topic><topic>dopamine</topic></subject><relatedItem type="host"><titleInfo><title>Mental Retardation and Developmental Disabilities Research Reviews</title></titleInfo><titleInfo type="abbreviated"><title>Ment. Retard. Dev. Disabil. Res. 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