Devlopment of diagnostic marker and new treatment for inherited glycosylphosphatidylinositol anchored protein deficiency
| Project/Area Number |
15K09618
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Osaka University |
|---|
Principal Investigator |
KOJI TOMINAGA 大阪大学, 連合小児発達学研究科, 助教 (20599245)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
青天目 信 大阪大学, 医学系研究科, 講師 (30570072)
岩谷 祥子 大阪大学, 連合小児発達学研究科, 特任助教 (60724903)
|
|---|
| Research Collaborator |
MURAKAMI YOSHIKO 大阪大学, 微生物病研究所・籔本難病解明寄附研究部門, 教授 (00304048)
TANIGAWA JUNPEI 大阪大学, 医学系研究科, 医員 (40768636)
|
|---|
| Project Period (FY) |
2015-04-01 – 2019-03-31
|
| Project Status |
Completed (Fiscal Year 2018)
|
| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
|
|---|
| Keywords | 先天性GPI欠損症 / ピリドキシン / てんかん / 先天性GPIアンカー欠損症 / 活性化葉酸 |
|---|
| Outline of Final Research Achievements |
1.We assessed that phenotype-genotype correlations in PIGO patients,and published to the journal of Human mutation.In this journal,we showed how the clinical severity of IGDs correlates with flow cytometric analysis of blood,functional analysis using a PIGO-deficient cell line,and the degree of hyperphosphatasia.The flow cytometric analysis and hyperphosphatasia are useful for IGD diagnosis,but the expression level of GPI-anchored proteins and the degree of hyperphosphatasia do not correlate,although functional studies do, with clinical severity.
2.In 10 IGD patients,serum alkaline phosphatase was examined.The results were that hyperphosphatasia was not always in individual cases.Then,flow cytometric analysis of blood was necessary in suspected IGD cases with normal range of alkaline phosphatase.
3.A study of pyridoxin therapy for 9 IGD patients was performed.
|
| Academic Significance and Societal Importance of the Research Achievements |
先天性GPI欠損症は、疾患概念が確立してから間もない神経難病である。また多数の原因遺伝子が存在するため、各遺伝子変異に対応する病型は今後も増える可能性がある。主症状が知的障害と運動発達遅滞、てんかんといった非特異的症状であるため、実際には多くの患者が診断されずに存在すると考えられる。そのため本疾患のスクリーニング検査や確定診断の方法、更には治療法の確立は非常に学術的意義、社会的意義が高いと考える。
|
Report
(5 results)
Research Products
(11 results)
-
[Journal Article] phenotypes from infantile lethality to mild learning difficulties2017
Author(s)
Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y
-
Journal Title
Human Mutation
Volume: 印刷中
Issue: 7
Pages: 805-815
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
-
-
-
-
-
-
-
-
-
