Screening of trinucleotid repeats disease using fibroblasts
| Project/Area Number |
13670646
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Tottori University |
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Principal Investigator |
ADACHI Yoshiki Tottori University, Department of Neurology, Lecturer, 医学部附属病院, 講師 (80243385)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2002: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2001: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Keywords | Polyglutamine disease / Neurodegenerative disease / Trinucleotide repeats disease / Spinocerebellar degeneration / Skin fibroblast / 1C2 antibody / 皮膚線維芽細胞 / ポリグルタミン |
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| Research Abstract |
Polyglutamine disease has abnormal expanded CAG trinucleotide repeats on coding region. Eight diseases reported as polyglultamine disease are neurodegenerative diseases. Some methods such as RED, DIRECT ware examined to find out this kind of disease, but difficult to detect CAG repeats expansion on coding region specifically. We planned to detect the expanded CAG repeats on coding region using fibroblast from patients and 1C2 antibody with immuno-histochemical methods. 1C2antibody is known as specific antibody to expanded polyglutamine. We use fibroblasts derived from two patients with spinocerebellar ataxia type 1 (SCA1), two patients with SCA3, two patients with Huntington disease and two control subjects after informed consent. After three generation of flask changes, I stained these fibroblasts with 1C2 antibody. Some fibroblasts had intranuclear staining in positive controls, compared with fibroblasts from control subjects. One family with autosomal dominant spinocerebellar degeneration from unknown origin had same pattern of staining. This method might be useful to detect the expanded CAG repeats on coding region.
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Report
(3 results)
Research Products
(3 results)
