Repeat instability as the basis for human diseases and as a potential target for therapy
Several human neurological and neuromuscular diseases are caused by the expansion of repetitive DNA tracts. Understanding the DNA metabolic processes responsible for the expansion (or lengthening) and contraction (or shortening) of DNA repeats might open new therapeutic avenues for the treatment of...
Gespeichert in:
| Veröffentlicht in: | Nature reviews. Molecular cell biology 2010-03, Vol.11 (3), p.165-170 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 170 |
|---|---|
| container_issue | 3 |
| container_start_page | 165 |
| container_title | Nature reviews. Molecular cell biology |
| container_volume | 11 |
| creator | Pearson, Christopher E Castel, Arturo López Cleary, John D |
| description | Several human neurological and neuromuscular diseases are caused by the expansion of repetitive DNA tracts. Understanding the DNA metabolic processes responsible for the expansion (or lengthening) and contraction (or shortening) of DNA repeats might open new therapeutic avenues for the treatment of these diseases.
Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size — targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions. |
| doi_str_mv | 10.1038/nrm2854 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_21499178</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A219832868</galeid><sourcerecordid>A219832868</sourcerecordid><originalsourceid>FETCH-LOGICAL-c560t-46fb8d9d095c30bbcc45b5370e354245bd185a37332f14561b21be866298674f3</originalsourceid><addsrcrecordid>eNpt0VuL1DAUB_AiintR_ARKUPDyMGvuTR-XxcvCgrAq-BZO29PZLG1akxScb78ZOzsyKnlIyPmdPwmnKJ4xesaoMO99GLhR8kFxzGTJVpQa-nB_LvlRcRLjLaVMs1I9Lo44ZWUpKnlc_LjGCSER52OC2vUubQhEkm6Q1BBdJN0YyM08gCetiwgRIwHfbg2QaUzok4OeJAhrTL9xbg0wbZ4UjzroIz7d7afF948fvl18Xl19-XR5cX61apSmaSV1V5u2ammlGkHrummkqpUoKQoleT63zCgQpRC8Y1JpVnNWo9GaV0aXshOnxesldwrjzxljsoOLDfY9eBznaDmTVcVKk-HLv-DtOAef32Y5l1oLoWlGrxa0hh6t892YAjTbRHvOWWUEN3obdfYflVeLg2tGj53L9wcN7w4askn4K61hjtFefr0-tG8W24QxxoCdnYIbIGwso3Y7bLsbdpYvdj-a6wHbvbufbgZvFxBzya8x_Pnyv1nPF-ohzQH3Wff1Ow0QuHU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>224663360</pqid></control><display><type>article</type><title>Repeat instability as the basis for human diseases and as a potential target for therapy</title><source>MEDLINE</source><source>Nature</source><source>SpringerLink Journals - AutoHoldings</source><creator>Pearson, Christopher E ; Castel, Arturo López ; Cleary, John D</creator><creatorcontrib>Pearson, Christopher E ; Castel, Arturo López ; Cleary, John D</creatorcontrib><description>Several human neurological and neuromuscular diseases are caused by the expansion of repetitive DNA tracts. Understanding the DNA metabolic processes responsible for the expansion (or lengthening) and contraction (or shortening) of DNA repeats might open new therapeutic avenues for the treatment of these diseases.
Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size — targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.</description><identifier>ISSN: 1471-0072</identifier><identifier>EISSN: 1471-0080</identifier><identifier>DOI: 10.1038/nrm2854</identifier><identifier>PMID: 20177394</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/737/211 ; 631/337 ; Animals ; Ataxia ; Base Sequence ; Biochemistry ; Biomedical and Life Sciences ; Brain ; Cancer Research ; Cell Biology ; Deoxyribonucleic acid ; Development and progression ; Developmental Biology ; DNA ; DNA Damage - drug effects ; DNA methylation ; DNA Repair - drug effects ; DNA Replication - drug effects ; DNA sequencing ; Drug Therapy - methods ; Epigenetic inheritance ; Epigenetics ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genomic Instability - drug effects ; Genomic Instability - genetics ; Humans ; Huntington's chorea ; Huntingtons disease ; In vitro fertilization ; Life Sciences ; Metabolism ; Methods ; Mice ; Models, Biological ; Neuromuscular diseases ; Nucleotide sequencing ; Pathogenesis ; progress ; Stem Cells ; Transcription, Genetic - drug effects ; Trinucleotide Repeat Expansion - genetics ; Trinucleotide Repeats - genetics</subject><ispartof>Nature reviews. Molecular cell biology, 2010-03, Vol.11 (3), p.165-170</ispartof><rights>Springer Nature Limited 2010</rights><rights>COPYRIGHT 2010 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Mar 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c560t-46fb8d9d095c30bbcc45b5370e354245bd185a37332f14561b21be866298674f3</citedby><cites>FETCH-LOGICAL-c560t-46fb8d9d095c30bbcc45b5370e354245bd185a37332f14561b21be866298674f3</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/nrm2854$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/nrm2854$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,2727,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20177394$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pearson, Christopher E</creatorcontrib><creatorcontrib>Castel, Arturo López</creatorcontrib><creatorcontrib>Cleary, John D</creatorcontrib><title>Repeat instability as the basis for human diseases and as a potential target for therapy</title><title>Nature reviews. Molecular cell biology</title><addtitle>Nat Rev Mol Cell Biol</addtitle><addtitle>Nat Rev Mol Cell Biol</addtitle><description>Several human neurological and neuromuscular diseases are caused by the expansion of repetitive DNA tracts. Understanding the DNA metabolic processes responsible for the expansion (or lengthening) and contraction (or shortening) of DNA repeats might open new therapeutic avenues for the treatment of these diseases.
Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size — targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.</description><subject>631/208/737/211</subject><subject>631/337</subject><subject>Animals</subject><subject>Ataxia</subject><subject>Base Sequence</subject><subject>Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Brain</subject><subject>Cancer Research</subject><subject>Cell Biology</subject><subject>Deoxyribonucleic acid</subject><subject>Development and progression</subject><subject>Developmental Biology</subject><subject>DNA</subject><subject>DNA Damage - drug effects</subject><subject>DNA methylation</subject><subject>DNA Repair - drug effects</subject><subject>DNA Replication - drug effects</subject><subject>DNA sequencing</subject><subject>Drug Therapy - methods</subject><subject>Epigenetic inheritance</subject><subject>Epigenetics</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genomic Instability - drug effects</subject><subject>Genomic Instability - genetics</subject><subject>Humans</subject><subject>Huntington's chorea</subject><subject>Huntingtons disease</subject><subject>In vitro fertilization</subject><subject>Life Sciences</subject><subject>Metabolism</subject><subject>Methods</subject><subject>Mice</subject><subject>Models, Biological</subject><subject>Neuromuscular diseases</subject><subject>Nucleotide sequencing</subject><subject>Pathogenesis</subject><subject>progress</subject><subject>Stem Cells</subject><subject>Transcription, Genetic - drug effects</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><subject>Trinucleotide Repeats - genetics</subject><issn>1471-0072</issn><issn>1471-0080</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpt0VuL1DAUB_AiintR_ARKUPDyMGvuTR-XxcvCgrAq-BZO29PZLG1akxScb78ZOzsyKnlIyPmdPwmnKJ4xesaoMO99GLhR8kFxzGTJVpQa-nB_LvlRcRLjLaVMs1I9Lo44ZWUpKnlc_LjGCSER52OC2vUubQhEkm6Q1BBdJN0YyM08gCetiwgRIwHfbg2QaUzok4OeJAhrTL9xbg0wbZ4UjzroIz7d7afF948fvl18Xl19-XR5cX61apSmaSV1V5u2ammlGkHrummkqpUoKQoleT63zCgQpRC8Y1JpVnNWo9GaV0aXshOnxesldwrjzxljsoOLDfY9eBznaDmTVcVKk-HLv-DtOAef32Y5l1oLoWlGrxa0hh6t892YAjTbRHvOWWUEN3obdfYflVeLg2tGj53L9wcN7w4askn4K61hjtFefr0-tG8W24QxxoCdnYIbIGwso3Y7bLsbdpYvdj-a6wHbvbufbgZvFxBzya8x_Pnyv1nPF-ohzQH3Wff1Ow0QuHU</recordid><startdate>20100301</startdate><enddate>20100301</enddate><creator>Pearson, Christopher E</creator><creator>Castel, Arturo López</creator><creator>Cleary, John D</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><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>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7RV</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>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PCBAR</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope></search><sort><creationdate>20100301</creationdate><title>Repeat instability as the basis for human diseases and as a potential target for therapy</title><author>Pearson, Christopher E ; Castel, Arturo López ; Cleary, John D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c560t-46fb8d9d095c30bbcc45b5370e354245bd185a37332f14561b21be866298674f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>631/208/737/211</topic><topic>631/337</topic><topic>Animals</topic><topic>Ataxia</topic><topic>Base Sequence</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Brain</topic><topic>Cancer Research</topic><topic>Cell Biology</topic><topic>Deoxyribonucleic acid</topic><topic>Development and progression</topic><topic>Developmental Biology</topic><topic>DNA</topic><topic>DNA Damage - drug effects</topic><topic>DNA methylation</topic><topic>DNA Repair - drug effects</topic><topic>DNA Replication - drug effects</topic><topic>DNA sequencing</topic><topic>Drug Therapy - methods</topic><topic>Epigenetic inheritance</topic><topic>Epigenetics</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genomic Instability - drug effects</topic><topic>Genomic Instability - genetics</topic><topic>Humans</topic><topic>Huntington's chorea</topic><topic>Huntingtons disease</topic><topic>In vitro fertilization</topic><topic>Life Sciences</topic><topic>Metabolism</topic><topic>Methods</topic><topic>Mice</topic><topic>Models, Biological</topic><topic>Neuromuscular diseases</topic><topic>Nucleotide sequencing</topic><topic>Pathogenesis</topic><topic>progress</topic><topic>Stem Cells</topic><topic>Transcription, Genetic - drug effects</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><topic>Trinucleotide Repeats - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pearson, Christopher E</creatorcontrib><creatorcontrib>Castel, Arturo López</creatorcontrib><creatorcontrib>Cleary, John D</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Earth, Atmospheric & Aquatic Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><jtitle>Nature reviews. Molecular cell biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pearson, Christopher E</au><au>Castel, Arturo López</au><au>Cleary, John D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Repeat instability as the basis for human diseases and as a potential target for therapy</atitle><jtitle>Nature reviews. Molecular cell biology</jtitle><stitle>Nat Rev Mol Cell Biol</stitle><addtitle>Nat Rev Mol Cell Biol</addtitle><date>2010-03-01</date><risdate>2010</risdate><volume>11</volume><issue>3</issue><spage>165</spage><epage>170</epage><pages>165-170</pages><issn>1471-0072</issn><eissn>1471-0080</eissn><abstract>Several human neurological and neuromuscular diseases are caused by the expansion of repetitive DNA tracts. Understanding the DNA metabolic processes responsible for the expansion (or lengthening) and contraction (or shortening) of DNA repeats might open new therapeutic avenues for the treatment of these diseases.
Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size — targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>20177394</pmid><doi>10.1038/nrm2854</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1471-0072 |
| ispartof | Nature reviews. Molecular cell biology, 2010-03, Vol.11 (3), p.165-170 |
| issn | 1471-0072 1471-0080 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_21499178 |
| source | MEDLINE; Nature; SpringerLink Journals - AutoHoldings |
| subjects | 631/208/737/211 631/337 Animals Ataxia Base Sequence Biochemistry Biomedical and Life Sciences Brain Cancer Research Cell Biology Deoxyribonucleic acid Development and progression Developmental Biology DNA DNA Damage - drug effects DNA methylation DNA Repair - drug effects DNA Replication - drug effects DNA sequencing Drug Therapy - methods Epigenetic inheritance Epigenetics Genetic aspects Genetic Predisposition to Disease - genetics Genomic Instability - drug effects Genomic Instability - genetics Humans Huntington's chorea Huntingtons disease In vitro fertilization Life Sciences Metabolism Methods Mice Models, Biological Neuromuscular diseases Nucleotide sequencing Pathogenesis progress Stem Cells Transcription, Genetic - drug effects Trinucleotide Repeat Expansion - genetics Trinucleotide Repeats - genetics |
| title | Repeat instability as the basis for human diseases and as a potential target for therapy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-06T14%3A14%3A42IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Repeat%20instability%20as%20the%20basis%20for%20human%20diseases%20and%20as%20a%20potential%20target%20for%20therapy&rft.jtitle=Nature%20reviews.%20Molecular%20cell%20biology&rft.au=Pearson,%20Christopher%20E&rft.date=2010-03-01&rft.volume=11&rft.issue=3&rft.spage=165&rft.epage=170&rft.pages=165-170&rft.issn=1471-0072&rft.eissn=1471-0080&rft_id=info:doi/10.1038/nrm2854&rft_dat=%3Cgale_proqu%3EA219832868%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=224663360&rft_id=info:pmid/20177394&rft_galeid=A219832868&rfr_iscdi=true |