The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease
Abstract We evaluated the contributions of various polyglutamine (polyQ) disease genes to Parkinson's disease (PD). We compared the distributions of polyQ repeat lengths in 8 common genes ( ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 , TBP , ATN1 , and HTT ) in 299 unrelated patients with autosomal...
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| Veröffentlicht in: | Neurobiology of aging 2014-07, Vol.35 (7), p.1779.e17-1779.e21 |
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| creator | Yamashita, Chikara Tomiyama, Hiroyuki Funayama, Manabu Inamizu, Saeko Ando, Maya Li, Yuanzhe Yoshino, Hiroyo Araki, Takehisa Ichikawa, Tadashi Ehara, Yoshiro Ishikawa, Kinya Mizusawa, Hidehiro Hattori, Nobutaka |
| description | Abstract We evaluated the contributions of various polyglutamine (polyQ) disease genes to Parkinson's disease (PD). We compared the distributions of polyQ repeat lengths in 8 common genes ( ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 , TBP , ATN1 , and HTT ) in 299 unrelated patients with autosomal dominant PD (ADPD) and 329 normal controls. We also analyzed the possibility of genetic interactions between ATXN1 and ATXN2 , ATXN2 and ATXN3 , and ATXN2 and CACNA1A . Intermediate-length polyQ expansions (>24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). These patients showed typical L-DOPA-responsive PD phenotypes. Conversely, no significant differences in polyQ repeat lengths were found between the ADPD patients and the controls for the other 7 genes. Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases. |
| doi_str_mv | 10.1016/j.neurobiolaging.2014.01.022 |
| format | Article |
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We compared the distributions of polyQ repeat lengths in 8 common genes ( ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 , TBP , ATN1 , and HTT ) in 299 unrelated patients with autosomal dominant PD (ADPD) and 329 normal controls. We also analyzed the possibility of genetic interactions between ATXN1 and ATXN2 , ATXN2 and ATXN3 , and ATXN2 and CACNA1A . Intermediate-length polyQ expansions (>24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). These patients showed typical L-DOPA-responsive PD phenotypes. Conversely, no significant differences in polyQ repeat lengths were found between the ADPD patients and the controls for the other 7 genes. Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases.</description><identifier>ISSN: 0197-4580</identifier><identifier>EISSN: 1558-1497</identifier><identifier>DOI: 10.1016/j.neurobiolaging.2014.01.022</identifier><identifier>PMID: 24534762</identifier><language>eng</language><publisher>United States</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Ataxins ; Female ; Genes, Dominant - genetics ; Genetic Association Studies ; Genetic Predisposition to Disease - genetics ; Humans ; Internal Medicine ; Male ; Middle Aged ; Nerve Tissue Proteins - genetics ; Neurology ; Parkinson Disease - genetics ; Peptides - genetics ; Repetitive Sequences, Amino Acid - genetics</subject><ispartof>Neurobiology of aging, 2014-07, Vol.35 (7), p.1779.e17-1779.e21</ispartof><rights>Elsevier Inc.</rights><rights>Copyright © 2014 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c700t-ee7e1e08997a6e5f4a1e6f0ecb21564fa0f99338be932cb0c5f3fb3ee341b9493</citedby><cites>FETCH-LOGICAL-c700t-ee7e1e08997a6e5f4a1e6f0ecb21564fa0f99338be932cb0c5f3fb3ee341b9493</cites><orcidid>0000-0001-8625-8413</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24534762$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yamashita, Chikara</creatorcontrib><creatorcontrib>Tomiyama, Hiroyuki</creatorcontrib><creatorcontrib>Funayama, Manabu</creatorcontrib><creatorcontrib>Inamizu, Saeko</creatorcontrib><creatorcontrib>Ando, Maya</creatorcontrib><creatorcontrib>Li, Yuanzhe</creatorcontrib><creatorcontrib>Yoshino, Hiroyo</creatorcontrib><creatorcontrib>Araki, Takehisa</creatorcontrib><creatorcontrib>Ichikawa, Tadashi</creatorcontrib><creatorcontrib>Ehara, Yoshiro</creatorcontrib><creatorcontrib>Ishikawa, Kinya</creatorcontrib><creatorcontrib>Mizusawa, Hidehiro</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><title>The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease</title><title>Neurobiology of aging</title><addtitle>Neurobiol Aging</addtitle><description>Abstract We evaluated the contributions of various polyglutamine (polyQ) disease genes to Parkinson's disease (PD). We compared the distributions of polyQ repeat lengths in 8 common genes ( ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 , TBP , ATN1 , and HTT ) in 299 unrelated patients with autosomal dominant PD (ADPD) and 329 normal controls. We also analyzed the possibility of genetic interactions between ATXN1 and ATXN2 , ATXN2 and ATXN3 , and ATXN2 and CACNA1A . Intermediate-length polyQ expansions (>24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). These patients showed typical L-DOPA-responsive PD phenotypes. Conversely, no significant differences in polyQ repeat lengths were found between the ADPD patients and the controls for the other 7 genes. Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Ataxins</subject><subject>Female</subject><subject>Genes, Dominant - genetics</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Parkinson Disease - genetics</subject><subject>Peptides - genetics</subject><subject>Repetitive Sequences, Amino Acid - genetics</subject><issn>0197-4580</issn><issn>1558-1497</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkV2L1DAUhoMo7rj6FyQXgt60nny1DYggi1-woOJ6HdLOyZjZNBmTdmH-vRlmFbzz6gTO8ybkeQl5waBlwLrX-zbimtPoU7A7H3ctByZbYC1w_oBsmFJDw6TuH5INMN03Ug1wQZ6UsgeAXvbdY3LBpRL1xDfk281PpHhnw2oXnyJNjh5SOO7CutjZR6QZD2iXQn2kdl1SSbMNdJvqzsaFfrX51seS4stCt76gLfiUPHI2FHx2Py_Jjw_vb64-NddfPn6-enfdTD3A0iD2yBAGrXvboXLSMuwc4DRypjrpLDithRhG1IJPI0zKCTcKRCHZqKUWl-TV-d5DTr9WLIuZfZkwBBsxrcWw-sVBCeDyP1AmpVAdQEXfnNEpp1IyOnPIfrb5aBiYk3-zN__6Nyf_Bpip_mv8-f1L6zjj9m_4j_AKvD0DWNXcecxmCj76yYZbPGLZpzXHas0wU7gB8_1U4alBJmt7QnfiN3bfnLM</recordid><startdate>20140701</startdate><enddate>20140701</enddate><creator>Yamashita, Chikara</creator><creator>Tomiyama, Hiroyuki</creator><creator>Funayama, Manabu</creator><creator>Inamizu, Saeko</creator><creator>Ando, Maya</creator><creator>Li, Yuanzhe</creator><creator>Yoshino, Hiroyo</creator><creator>Araki, Takehisa</creator><creator>Ichikawa, Tadashi</creator><creator>Ehara, Yoshiro</creator><creator>Ishikawa, Kinya</creator><creator>Mizusawa, Hidehiro</creator><creator>Hattori, Nobutaka</creator><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>7X8</scope><scope>7TK</scope><orcidid>https://orcid.org/0000-0001-8625-8413</orcidid></search><sort><creationdate>20140701</creationdate><title>The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease</title><author>Yamashita, Chikara ; Tomiyama, Hiroyuki ; Funayama, Manabu ; Inamizu, Saeko ; Ando, Maya ; Li, Yuanzhe ; Yoshino, Hiroyo ; Araki, Takehisa ; Ichikawa, Tadashi ; Ehara, Yoshiro ; Ishikawa, Kinya ; Mizusawa, Hidehiro ; Hattori, Nobutaka</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c700t-ee7e1e08997a6e5f4a1e6f0ecb21564fa0f99338be932cb0c5f3fb3ee341b9493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Ataxins</topic><topic>Female</topic><topic>Genes, Dominant - genetics</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurology</topic><topic>Parkinson Disease - genetics</topic><topic>Peptides - genetics</topic><topic>Repetitive Sequences, Amino Acid - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yamashita, Chikara</creatorcontrib><creatorcontrib>Tomiyama, Hiroyuki</creatorcontrib><creatorcontrib>Funayama, Manabu</creatorcontrib><creatorcontrib>Inamizu, Saeko</creatorcontrib><creatorcontrib>Ando, Maya</creatorcontrib><creatorcontrib>Li, Yuanzhe</creatorcontrib><creatorcontrib>Yoshino, Hiroyo</creatorcontrib><creatorcontrib>Araki, Takehisa</creatorcontrib><creatorcontrib>Ichikawa, Tadashi</creatorcontrib><creatorcontrib>Ehara, Yoshiro</creatorcontrib><creatorcontrib>Ishikawa, Kinya</creatorcontrib><creatorcontrib>Mizusawa, Hidehiro</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Neurobiology of aging</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yamashita, Chikara</au><au>Tomiyama, Hiroyuki</au><au>Funayama, Manabu</au><au>Inamizu, Saeko</au><au>Ando, Maya</au><au>Li, Yuanzhe</au><au>Yoshino, Hiroyo</au><au>Araki, Takehisa</au><au>Ichikawa, Tadashi</au><au>Ehara, Yoshiro</au><au>Ishikawa, Kinya</au><au>Mizusawa, Hidehiro</au><au>Hattori, Nobutaka</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease</atitle><jtitle>Neurobiology of aging</jtitle><addtitle>Neurobiol Aging</addtitle><date>2014-07-01</date><risdate>2014</risdate><volume>35</volume><issue>7</issue><spage>1779.e17</spage><epage>1779.e21</epage><pages>1779.e17-1779.e21</pages><issn>0197-4580</issn><eissn>1558-1497</eissn><abstract>Abstract We evaluated the contributions of various polyglutamine (polyQ) disease genes to Parkinson's disease (PD). We compared the distributions of polyQ repeat lengths in 8 common genes ( ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 , TBP , ATN1 , and HTT ) in 299 unrelated patients with autosomal dominant PD (ADPD) and 329 normal controls. We also analyzed the possibility of genetic interactions between ATXN1 and ATXN2 , ATXN2 and ATXN3 , and ATXN2 and CACNA1A . Intermediate-length polyQ expansions (>24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). These patients showed typical L-DOPA-responsive PD phenotypes. Conversely, no significant differences in polyQ repeat lengths were found between the ADPD patients and the controls for the other 7 genes. Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases.</abstract><cop>United States</cop><pmid>24534762</pmid><doi>10.1016/j.neurobiolaging.2014.01.022</doi><orcidid>https://orcid.org/0000-0001-8625-8413</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Neurobiology of aging, 2014-07, Vol.35 (7), p.1779.e17-1779.e21 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adult Aged Aged, 80 and over Ataxins Female Genes, Dominant - genetics Genetic Association Studies Genetic Predisposition to Disease - genetics Humans Internal Medicine Male Middle Aged Nerve Tissue Proteins - genetics Neurology Parkinson Disease - genetics Peptides - genetics Repetitive Sequences, Amino Acid - genetics |
| title | The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease |
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