2017 Fiscal Year Final Research Report
Development of phenotype predictive diagnosis method and treatment in adrenoleukodystrophy by the methods combines patient resource and disease model
Project/Area Number |
15H04875
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Gifu University |
Principal Investigator |
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Co-Investigator(Renkei-kenkyūsha) |
TAKASHIMA Shigeo 岐阜大学, 生命科学総合研究支援センター, 助教 (50537610)
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Project Period (FY) |
2015-04-01 – 2018-03-31
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Keywords | 副腎白質ジストロフィー / 脱髄 / 造血幹細胞移植 / 早期診断 / 病型規定因子 / 神経接着因子 / マイクロアレイ解析 / 二頭酵素欠損症 |
Outline of Final Research Achievements |
Achievement of early diagnosis system by academia: 77 cases of ALD patients were diagnosed and the latest medical information was provided. Among them, cerebral type patients as transplant indication were provided in the shortest 2 days, leading to improvement of patient prognosis from early transplantation. Neuronal cell adhesion factor was specified as cerebral-type related candidate genes by microarray analysis of RNA samples from the patients between before and after transplantation. Even in gene expression analysis with further cases, variation of the factor was verified. Meanwhile, there was no clear difference of the factor between patient samples from cerebral type and those from non-cerebral type AMN. As a result of gene expression analysis of the liver by administering Lorenzo’s Oil to mice, it became clear that gene expression of peroxisomal D-bifunctional protein (DBP) was increased. We will also conduct research on the clinical application to DBP deficient patients.
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Free Research Field |
先天代謝異常
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