The research for Angelman syndrome pathology by construct a new observation system of fine neronal structure.

2018 Fiscal Year Final Research Report

• Project/Area Number: 15K14338
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Nerve anatomy/Neuropathology
• Research Institution: National Institute of Advanced Industrial Science and Technology
• Principal Investigator: Ebihara Tatsuhiko 国立研究開発法人産業技術総合研究所, 生命工学領域, 研究グループ付 (00344119)
• Research Collaborator: SATO Chikara
• Project Period (FY): 2015-04-01 – 2019-03-31
• Keywords: 神経発生 / 神経病理学 / エピジェネティクス

Outline of Final Research Achievements

Angelman Syndrome is a congenital disease accompanied by severe developmental delay, and its causative gene and chromosomal and gene abnormalities leading to the onset of disease are already known. Molecular aspect of pathological analysis is in around of starting line yet. As the condition of this disease is severe, any small effective treatment can be performed, the QOL of patients and their families can be greatly improved. This study aimed to construct an experimental system using an atmospheric scanning electron microscope (ASEM) with the final goal of elucidating the molecular level pathological mechanism.
I examined the staining conditions for observing the fine structure of the neuron using ASEM, and constructed observation system (published). Furthermore, a pathological model mouse suitable for this observation is created by genetic modification.

Free Research Field

分子神経生物学

Academic Significance and Societal Importance of the Research Achievements

大気圧走査電子顕微鏡(ASEM)は、産総研と日本電子によって開発された、水中のサンプルを直接観察できる電子顕微鏡である。アンジェルマン症候群の神経微細構造への影響を調べるためにASEMは有用と考えられるが、この観察系用に細胞の調整・染色方法を新に開発する必要があった。本研究にてASEMでの神経の微細構造観察を実現した。今後、核内の遺伝子局在や原因タンパク抑制時の海馬初代培養神経の構造異常を解析する。
また、病理モデルマウスの作製も継続して行っており、系統樹立次第、上記の観察に供せるものと期待される。