ID 110794
著者
タタノ, ユタカ Department of Medicinal Biotechnology, Institute for Medicinal Resources, Graduate School of Pharmaceutical Sciences, The University of Tokushima|CREST, JST
タケウチ, ナオヒロ Department of Medicinal Biotechnology, Institute for Medicinal Resources, Graduate School of Pharmaceutical Sciences, The University of Tokushima
桑原, 淳 Department of Medicinal Biotechnology, Institute for Medicinal Resources, Graduate School of Pharmaceutical Sciences, The University of Tokushima
サクラバ, ヒトシ Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research|CREST, JST
タカハシ, ツトム Department of Pediatrics, Akita University of Medical School
タカダ, ゴロウ Department of Pediatrics, Akita University of Medical School
伊藤, 孝司 Department of Medicinal Biotechnology, Institute for Medicinal Resources, Graduate School of Pharmaceutical Sciences, The University of Tokushima|CREST, JST 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
elastin-binding protein
lysosomal β -galactosidase gene
lysosomal enzyme deficiencies
morquio B disease
costello syndrome
資料タイプ
学術雑誌論文
抄録
The human GLB1 gene encodes a lysosomal β-galactosidase (β-Gal) and an elastinbinding protein(EBP). Defect of the EBP as a chaperon for tropoelastin and a component of receptor complex amongneuraminidase-1 (NEU1) and protective protein/ cathepsin A(PPCA)is suggested responsible for impaired elastogenesis in autosomal recessive β-Gal, PPCA and NEU1 deficiencies. The purpose of this study is to determine effects ofGLB1, PPCA and NEU1gene mutations on elastogenesis in skin fibroblasts. Elastic fiber formation and the EBP mRNA expression were examined by immunofluorescence with an anti-tropoelastin antibody and RT-PCR selective for EBP in skin fibroblasts with these lysosomal enzyme deficiencies. Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H andW273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. In this study, theW273L substitution in the EBP could impossibly cause the proposed defect of elastogenesis, and the typical PPCA splicing mutation and the V217M/G243R substitutions in the NEU1 might hardly have effects on elastic fiber formation in the dermal fibroblasts.
掲載誌名
The journal of medical investigation : JMI
ISSN
13431420
cat書誌ID
AA11166929
53
1-2
開始ページ
103
終了ページ
112
並び順
103
発行日
2006-02
EDB ID
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
薬学系