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ATP-BINDING CASSETTE (ABC) TRANSPORTER GENESIN FIBROBLASTS WITH TYPES A AND B NIEMANN-PICK DISEASE
http://hdl.handle.net/10295/1810
http://hdl.handle.net/10295/1810f5df5c6d-d083-43b4-aae3-bc7a5e1026e1
名前 / ファイル | ライセンス | アクション |
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akitai37(123).pdf (1.3 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2011-12-02 | |||||
タイトル | ||||||
タイトル | ATP-BINDING CASSETTE (ABC) TRANSPORTER GENESIN FIBROBLASTS WITH TYPES A AND B NIEMANN-PICK DISEASE | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Types A and B Niemann-Pick disease | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ABC transporters | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | low HDL cholesterol | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Hirai, Daishi
× Hirai, Daishi× Narita, Ayuko× Takahashi, Tsutomu |
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内容記述(抄録) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Types A and B Niemann-Pick disease (NPD) comprise an autosomal recessive disorder caused by a deficiency of lysosomal acid sphingomyelinase (ASM), which leads to the intracellular accumulation of sphingomyelin and cholesterol and results in abnormalities of lipid metabolism. We report two patients with types A and B NPD showing low levels of high-density lipoprotein (HDL) cholesterol in their sera. Three novel mutations, c.567delT, c.575delC, and c.1481-9T>G, and a known mutation, c.691T>C, of the ASM gene were identified in the patients. The c.691T>C mutation is a unique genotype related to a very mild phenotype of type B NPD in the Japanese population. Next, the mRNA expressions of 4 ATP-binding cassette (ABC) transporters related to lipid metabolism, ABCA1, ABCA3, ABCA7, and ABCG1, were analyzed in fibroblasts with types A and B NPD by real-time RT-PCR using hybridization probes. In the analyses, the mRNA levels of ABCG1 were significantly decreased in the fibroblasts of types A and B NPD. The decreased protein level of ABCG1 was also confirmed by Western blot in a fibroblast of type B NPD. The results suggest that secondary dysfunction of ABCG1 may cause an impairment of cholesterol efflux in the peripheral cells, leading to the low plasma levels of HDL cholesterol in types A and B NPD. ABCG1 is a liver-X-receptor (LXR) target gene involved in cholesterol efflux to HDL, therefore LXR agonist treatment resulted in the reduction of cholesterol and sphingomyelin storage in the fibroblasts of type B NPD. | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
書誌情報 |
秋田医学 巻 37, 号 3/4, p. 123-133, 発行日 2011-03-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 03866106 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00009294 | |||||
出版者 | ||||||
出版者 | 秋田医学会 |