Developments in the molecular biology of DYT1 dystonia.
Identifieur interne : 000B90 ( Ncbi/Checkpoint ); précédent : 000B89; suivant : 000B91Developments in the molecular biology of DYT1 dystonia.
Auteurs : Ruth H. Walker [États-Unis] ; P. ShashidharanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2003.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- chemical , metabolism : Carrier Proteins.
- etiology : Dystonia.
- genetics : Dystonia.
- Animals, Animals, Genetically Modified, Disease Models, Animal, Humans, Molecular Biology, Molecular Chaperones, Mutation.
Abstract
The identification of a mutation of the DYT1 gene as a cause of inherited dystonia has led to many insights regarding the genetics of this disorder. In addition, there is a rapidly expanding list of inherited dystonia syndromes, the genes for some of which have been identified or localized. The DYT1 mutation has been found in a variety of ethnic groups, and it may result in a range of phenotypes. To date, studies of torsinA, the protein product of the DYT1 gene, have not revealed its function, although its widespread distribution throughout the central nervous system suggests a universal role. TorsinA has structural homology to heat shock and chaperone proteins. Evidence from studies in cell cultures and Caenorhabditis elegans, and the presence of torsinA in inclusion bodies in several neurodegenerative diseases may be indicative of a function of this nature. Preliminary studies in humans with DYT1 dystonia and in DYT1 transgenic mice suggest disruption of the dopaminergic nigrostriatal system. A functional interference with neuronal signal processing induced by mutation of torsinA is consistent with current hypotheses regarding impairment of the center-surround mechanism in the striatum.
DOI: 10.1002/mds.10549
PubMed: 14534912
Affiliations:
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Shashidharan</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2003">2003</date><idno type="RBID">pubmed:14534912</idno><idno type="pmid">14534912</idno><idno type="doi">10.1002/mds.10549</idno><idno type="wicri:Area/PubMed/Corpus">003674</idno><idno type="wicri:Area/PubMed/Curation">003674</idno><idno type="wicri:Area/PubMed/Checkpoint">003816</idno><idno type="wicri:Area/Ncbi/Merge">000B90</idno><idno type="wicri:Area/Ncbi/Curation">000B90</idno><idno type="wicri:Area/Ncbi/Checkpoint">000B90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Developments in the molecular biology of DYT1 dystonia.</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. Walker</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA. ruth.walker@mssm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Shashidharan, P" sort="Shashidharan, P" uniqKey="Shashidharan P" first="P" last="Shashidharan">P. Shashidharan</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Animals, Genetically Modified</term><term>Carrier Proteins (genetics)</term><term>Carrier Proteins (metabolism)</term><term>Disease Models, Animal</term><term>Dystonia (etiology)</term><term>Dystonia (genetics)</term><term>Humans</term><term>Molecular Biology</term><term>Molecular Chaperones</term><term>Mutation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Animals, Genetically Modified</term><term>Disease Models, Animal</term><term>Humans</term><term>Molecular Biology</term><term>Molecular Chaperones</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The identification of a mutation of the DYT1 gene as a cause of inherited dystonia has led to many insights regarding the genetics of this disorder. In addition, there is a rapidly expanding list of inherited dystonia syndromes, the genes for some of which have been identified or localized. The DYT1 mutation has been found in a variety of ethnic groups, and it may result in a range of phenotypes. To date, studies of torsinA, the protein product of the DYT1 gene, have not revealed its function, although its widespread distribution throughout the central nervous system suggests a universal role. TorsinA has structural homology to heat shock and chaperone proteins. Evidence from studies in cell cultures and Caenorhabditis elegans, and the presence of torsinA in inclusion bodies in several neurodegenerative diseases may be indicative of a function of this nature. Preliminary studies in humans with DYT1 dystonia and in DYT1 transgenic mice suggest disruption of the dopaminergic nigrostriatal system. A functional interference with neuronal signal processing induced by mutation of torsinA is consistent with current hypotheses regarding impairment of the center-surround mechanism in the striatum.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><noCountry><name sortKey="Shashidharan, P" sort="Shashidharan, P" uniqKey="Shashidharan P" first="P" last="Shashidharan">P. Shashidharan</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. Walker</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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