| Item type |
学術雑誌論文 / Journal Article(1) |
| 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 |
en |
| 言語 |
|
|
言語 |
eng |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Types A and B Niemann-Pick disease |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
ABC transporters |
| 主題 |
|
|
言語 |
en |
|
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 |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 作成者 |
Hirai, Daishi
Narita, Ayuko
Takahashi, Tsutomu
|
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
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. |
|
言語 |
en |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 書誌情報 |
ja : 秋田医学
巻 37,
号 3/4,
p. 123-133,
発行日 2011-03-01
|
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
03866106 |
| 収録物識別子 |
|
|
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 |
|
言語 |
ja |
akitai37(123).pdf (1.3 MB)
