2023 Fiscal Year Final Research Report
| Project/Area Number |
21K07784
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Fukuoka University (2021, 2023)
Daiichi University, College of Pharmaceutical Sciences (2022) |
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Principal Investigator |
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 発達性てんかん性脳症 / Dravet症候群 / 疾患特異的iPS細胞 / 脳オルガノイド / SCN1A / Nav1.1 / 神経変性 / 疾患モデル |
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| Outline of Final Research Achievements |
We generated brain organoids from iPS cells derived from a patient with Dravet syndrome. Almost cells within neural rosettes were characterized by expression of the expressing the telencephalic marker FOXG1 and the subpallial medial ganglionic eminence (MGE) marker Nkx2.1.
RNA was extracted from MGE brain organoids cultured for 12 weeks, and gene expression analysis was performed using RNA sequencing with next-generation sequencers. Comparing the gene expression in MGE braind organoids derived from healthy individuals and those with DS using RNA-seq, we found changes in the expression of several genes. We are currently analyzing whether these gene expression changes are involved in the pathogenesis of Dravet syndrome.
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| Free Research Field |
小児科学
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| Academic Significance and Societal Importance of the Research Achievements |
ドラベ症候群（DS）における発達性てんかん性脳症（DEE）の発症は、群発する難治のてんかん発作により惹起されると考えられている。この群発するてんかん発作に伴った神経毒性や神経変性の関与が疑われているが、DEEにおける重篤な認知機能障害などを含む発達遅滞の発症機構については、未だ不明な点が多い。すなわち、DEEの発症機序を解明すれば、難治性疾患であるDSの根治を目指した革新的な治療研究に繋がることが期待され、苦悩する患者や家族にとって大きな福音となる。
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