2002 Fiscal Year Final Research Report Summary
A study for the contribution of RNA editing abnormality in sporadic Alzheimer's disease.
| Project/Area Number |
13670662
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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 | Osaka City University |
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Principal Investigator |
TAKUMA Hiroshi Osaka City University, Graduate school of medicine, research associate, 大学院・医学研究科, 助手 (00326258)
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| Co-Investigator(Kenkyū-buntansha) |
TOMIYAMA Takami Osaka City University, Graduate school of medicine, lecturer, 大学院・医学研究科, 講師 (10305633)
MORI Hiroshi Osaka City University, Graduate school of medicine, professor, 大学院・医学研究科, 教授 (10159189)
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| Project Period (FY) |
2001 – 2002
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| Keywords | sporadic Alzheimer's disease / RNA editing / presenilin / APP / nicastrin |
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| Research Abstract |
This study was performed on exploring new mutations in sporadic Alzheimer's disease (AD). We have found the occurrence of RNA-editing error as post-transcriptional modification in ALS patients. Based on this observation, we examined if such editing error is a potential cause for other neurodegenerating diseases than ALS. AD is well known to be one of popular neurodegenerating diseases and its sporadic forms occupy more than 90% of the whole cases. We studied genomic sequence particularly focusing on presenilin1, amyloid precursor protein and nicastrin because these three are established to the main causal genes for femilial AD cases. Genes of interest were reversed-transcribed, amplified with specific primers to encode three genes and sequenced. We analyzed more than 20 cases and found several SNP changes but failed to find the positive correlation between the genetic alteration and disease onset. Among these cases, we observed two interesting cases. One has the PS1 L153L mutation. This case was sporadic and 90 yr old. Probably the cases was not caused by this silent mutation but by normal aging because it is very late-onset. Another case was sporadic and young. He was 27 yr old. The case shows PS1 L85P mutation and particularly interesting because it shows visual agnosia as well as spastic paraparesis which was very common to early-onset familial AD cases with PS1 mutations. We do not know the relationship between visual agnosia and PS1 alteration but it is supposed to be worth to be examined in future.
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[Publications] Takuma, H., Shimada, H., Inoue, Y., Ishimura, E., Himuro, K., Miki, T., and Nishizawa, Y.: "Hypertrophic pachymeningitis with anti-neutrophil cytoplasmic antibody (p-ANCA), and diabetes insipidus."Acta Neurol Sca. 104. 397-421 (2001)
Description
「研究成果報告書概要(欧文)」より
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