Molecular mechanism for a cerebral small vessel disease caused by heterozygosity for novel mutations in HTRA1 gene
| Project/Area Number |
23790983
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Neurology
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| Research Institution | Niigata University |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | HTRA1 / CARASIL / cerebral small vessel disease / dominant negative / 脳小血管病 |
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| Research Abstract |
Homozygous mutations in the high temperature requirement serine peptidase A1 (HTRA1) gene cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) by decrease of its protease activity. We analyzed HTRA1 ORF sequences in 41 patients with CARASIL-like syndrome 〓70 years of age carrying no notch3 mutations and found 4 patients (9.8%) carrying heterozygous novel mutations in the HTRA1 gene. Although two nonsense mutations in the HTRA1 gene, which result in null expression, have been reported in CARASIL patients, no one carrying the heterozygous nonsense mutation presented CARASIL-like syndrome. In this study, we elucidated inhibitory effect of novel mutated HTRA1s on protease activity of wild type HTRA1.
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Report
(3 results)
Research Products
(8 results)
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[Presentation] HTRA1ミスセンス変異はヘテロ接合体でも脳小血管病を引き起こす2012
Author(s)
野崎洋明,二本松萌,齋藤洋兵,針生真弥,水野敏樹,水田依久子,志賀篤,小山哲秀,加藤泰介,野田智子,垣内無一,伊藤彰一,西澤正豊,小野寺理
Organizer
第53回神経学会学術大会
Place of Presentation
東京
Year and Date
2012-05-23
Related Report
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