{"created":"2021-03-01T06:26:49.154435+00:00","id":21736,"links":{},"metadata":{"_buckets":{"deposit":"2e2ba4c3-4810-4a3a-99ad-b8441e6e44f4"},"_deposit":{"id":"21736","owners":[],"pid":{"revision_id":0,"type":"depid","value":"21736"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00021736","sets":["453:456","471:537:538:1191"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Molecular Genetic Analysis for Myoclonus Epilepsy Associated with Ragged-Red Fibers (MERRF)"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1990-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"12","bibliographicPageEnd":"1036","bibliographicPageStart":"1026","bibliographicVolumeNumber":"104","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a clinical phenotype of mitochondrial disease, which is characterized by myoclonus, ataxia, epilepsy, and myopathy. Although MERRF shows maternal inheritance consistent with a mtDNA mutation, the primary genetic defect of the disease has not been yet identified. We determined ninety-eight percent of the nucleotide sequence of muscle mtDNA obtained from a pathologically proven MERRF patient to elucidate the genetic cause of the disease. We performed direct sequencing of polymerase chain reaction (PCR) products or sequencing of cloned PCR products of mtDNA from this patient. Nucleotide sequence analysis revealed 33 single base substitutions, containing 23 substitutions in coding regions of the mtDNA and 10 in non-coding regions, compared with normal human mtDNA sequence reported by Anderson et al. Although three base substitutions would result in substitutions of amino acids, which are conserved among species, all three MERRF patients had an identical A to G base substitution at nucleotide position 8344 in the tRNA^<Lys> region. The A residue is highly conserved among species. The base substituion was not found in 15 controls. Various degrees of the combined enzymic defects in the oxidative phosphorylation system of mitochondria might be explained by altered function or structure of the mutant. tRNA^<Lys>. We studied five more cases from three indipendent families to know if all patients have the same mutation, and found this mutation in all patients by PCR-Restriction fragments length polymorphism (RFLP) with a mismatch primer. The mutation in tRNA^<Lys> was shown in all the patients. In addition, all MERRF patients have very small amount of wild type sequence. As leucocytes mtDNA from the patients also have the mutation, genetic diagnosis of the disease without muscle biopsy is capable.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"132531","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Yoneda, Makoto"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"米田, 誠"}],"nameIdentifiers":[{"nameIdentifier":"132530","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":"2019-08-16"}],"displaytype":"detail","filename":"104(12)_1026-1036.pdf","filesize":[{"value":"3.5 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"104(12)_1026-1036.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/21736/files/104(12)_1026-1036.pdf"},"version_id":"670e2020-934c-4074-a7d6-79adbd17d0aa"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"mitochondrial disease","subitem_subject_scheme":"Other"},{"subitem_subject":"MERRF","subitem_subject_scheme":"Other"},{"subitem_subject":"mitochondrial DNA","subitem_subject_scheme":"Other"},{"subitem_subject":"tRNA^<Lys>","subitem_subject_scheme":"Other"},{"subitem_subject":"sequencing","subitem_subject_scheme":"Other"},{"subitem_subject":"ミトコンドリア病","subitem_subject_scheme":"Other"},{"subitem_subject":"ミトコンドリア遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"塩基配列","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Myoclonus Epilepsy Associated with Ragged-Red Fibers(MERRF)の病因に関する分子遺伝学的研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Myoclonus Epilepsy Associated with Ragged-Red Fibers(MERRF)の病因に関する分子遺伝学的研究"},{"subitem_title":"Myoclonus Epilepsy Associated with Ragged-Red Fibers(MERRF)の病因に関する分子遺伝学的研究","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1191"],"pubdate":{"attribute_name":"公開日","attribute_value":"2015-12-08"},"publish_date":"2015-12-08","publish_status":"0","recid":"21736","relation_version_is_last":true,"title":["Myoclonus Epilepsy Associated with Ragged-Red Fibers(MERRF)の病因に関する分子遺伝学的研究"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:52:12.328828+00:00"}