{"created":"2023-06-19T11:39:49.614166+00:00","id":8019,"links":{},"metadata":{"_buckets":{"deposit":"02028b57-eec2-405e-81a0-cc324e6d3a73"},"_deposit":{"created_by":15,"id":"8019","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"8019"},"status":"published"},"_oai":{"id":"oai:mie-u.repo.nii.ac.jp:00008019","sets":["334:627:1692670264243"]},"author_link":["19518","19519","19520"],"item_8_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-03-20","bibliographicIssueDateType":"Issued"}}]},"item_8_description_14":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_8_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"紀伊半島に多発する筋萎縮性側索硬化症/パーキンソン認知症複合(紀伊ALS/PDC)における発症要因と病態解明を目的に、下記の点について検討を行った。1)遺伝子検索(1)候補遺伝子解析:パーキンソン病関連遺伝子(alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, ATP13A2)、認知症関連遺伝子(APOE4, MAPT, PGRN, TARDBP, GSK3β)、運動ニューロン疾患関連遺伝子(SOD1, SOD2, SOD3,ALS2 alsin, SMN1, ANG, VEGF, VCP, VAPB, DCTN1 CHMP2B)について、既知の変異の有無を検討したが、すべての遺伝子について変異は認めなかった。また、平行して行ったGene dosage analyses(MAPT, alpha-synuclein, TARDBP, GSK3β,parkin)についても異常を認めなかった。さらに、若年性ALSの原因遺伝子として2009年春に同定されたFUS/TLS遺伝子の解析を行ったが、異常を認めなかった。(2)TRPM7遺伝子:細胞内カルシウムとマグネシウムの調節に関与し、グアム症例でミスセンス変異の認められたTRPM7遺伝子について検討したが、紀伊症例では同一の変異は認めなかった。2)TDP-43蛋白:2006年に発見されたALSと前頭側頭型認知症の神経細胞に特異的に出現するTDP-43蛋白にっいて生化学的、免疫組織化学的に検討した。紀伊ALS/PDC 5例での検討では、全例で海馬と脊髄の神経細胞内にTDP-43陽性封入体を認めた。ALS/PDCは、tau,α-synuclein, TDP-43が複合して蓄積する疾患であることがわかった。3)OPTN蛋白:2010年に遺伝性ALSの発症遺伝子として同定されたOPTN蛋白は、紀伊ALS/PDCの脊髄運動ニューロンにおいて主な蓄積蛋白としては認められず、また遺伝子変異もなかった。4)Ataxin遺伝子解析:現在、ALSのリスク遺伝子として報告されたataxin遺伝子のpoly Q延長について、解析を進めている。","subitem_description_type":"Abstract"},{"subitem_description":"Objectives : To clarify the genetic background of amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) of the Kii peninsula, Japan (KiiALS/PDC). Methods : We performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including amyotrophic lateral sclerosis(ALS)/frontotemporal lobar degeneration (FTLD)-related genes(SOD2, SOD3, ALS2 alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP), tauopathy-related gene (GSK3β), and parkinsonism-related genes(alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alpha-synucleln, TARDBP,GSK3β, and parkin. Results : We found no mutation in the 19 genes. We found a homozygous non-synonymous SNP(ALS2 alsin V368M) shared in all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TARDBP, GSK3β, and pakin.Conclusions : The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutation in all exons, exon intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.","subitem_description_type":"Abstract"}]},"item_8_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"平成20~22年度科学研究費補助金(基盤研究(C))研究成果報告書","subitem_description_type":"Other"}]},"item_8_description_64":{"attribute_name":"科研費番号","attribute_value_mlt":[{"subitem_description":"20590994","subitem_description_type":"Other"}]},"item_8_publisher_30":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"三重大学"}]},"item_8_text_18":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_text_value":"Gene analysis of amyotrophic lateral sclerosis/parkinsonism-dementia complex, Kii, Japan"}]},"item_8_text_65":{"attribute_name":"資源タイプ（三重大）","attribute_value_mlt":[{"subitem_text_value":"Kaken / 科研費報告書"}]},"item_8_version_type_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"小久保, 康昌","creatorNameLang":"ja"},{"creatorName":"KOKUBO, Yasumasa","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"19518","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"葛原, 茂樹","creatorNameLang":"ja"},{"creatorName":"KUZUHARA, Sigeki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"19519","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"富山, 弘幸","creatorNameLang":"ja"},{"creatorName":"TOMIYAMA, Hiroyuki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"19520","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-02-18"}],"displaytype":"detail","filename":"30K16718.pdf","filesize":[{"value":"411.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"30K16718.pdf","url":"https://mie-u.repo.nii.ac.jp/record/8019/files/30K16718.pdf"},"version_id":"b3235ca1-5fc7-43aa-98a6-dab2039e7b55"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"筋萎縮性側索硬化症","subitem_subject_scheme":"Other"},{"subitem_subject":"パーキンソン認知症複合","subitem_subject_scheme":"Other"},{"subitem_subject":"タウオパチー","subitem_subject_scheme":"Other"},{"subitem_subject":"TDP-43","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子解析","subitem_subject_scheme":"Other"},{"subitem_subject":"紀伊半島","subitem_subject_scheme":"Other"},{"subitem_subject":"グアム島","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"紀伊半島のAＬＳとパーキンソン痴呆複合におけるＳＮＰｓ解析による発病因子の検討","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"紀伊半島のAＬＳとパーキンソン痴呆複合におけるＳＮＰｓ解析による発病因子の検討","subitem_title_language":"ja"}]},"item_type_id":"8","owner":"15","path":["1692670264243"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2014-03-10"},"publish_date":"2014-03-10","publish_status":"0","recid":"8019","relation_version_is_last":true,"title":["紀伊半島のAＬＳとパーキンソン痴呆複合におけるＳＮＰｓ解析による発病因子の検討"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-11-06T02:53:05.895418+00:00"}