2020 Fiscal Year Final Research Report
Pathological analysis using iPSCs derived from autosomal dominant optic neuropathy patients
| Project/Area Number |
19K18829
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 56060:Ophthalmology-related
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Project Period (FY) |
2019-04-01 – 2021-03-31
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| Keywords | ヒトiPS細胞 / 網膜神経節細胞 / 視神経委縮 |
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| Outline of Final Research Achievements |
We established iPSCs from the skin of a patient with autosomal dominant optic atrophy (ADOA) who had an OPA1 mutation. The iPSCs were induced to differentiate into artificial three-dimensional retinal organoids using a differentiation induction method with minor modifications to a previous report. Immunostaining for Pou4f2, a retinal ganglion cell marker, was performed in the 3D retinal organoids on the 40th day of differentiation, and there was no significant difference in the number of Pou4F2-positive cells between the ADOA group and the normal group. The number of mitochondria in the neurites of isolated retinal ganglion cells was significantly decreased in the ADOA group. It is likely that abnormal mitochondrial function is responsible for neural atrophy.
Translated with www.DeepL.com/Translator (free version)
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| Free Research Field |
眼科
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| Academic Significance and Societal Importance of the Research Achievements |
Optic atrophy 1 (OPA1) 遺伝子変異による遺伝性視神経症である常染色体優性視神経萎縮症 (autosomal dominant optic atrophy: ADOA) は幼少期より視機能障害が生じる治療困難な疾患である。視神経は組織採取して研究を行うことが困難な臓器の一つであるが、ヒトiPS細胞を使用することにより患者の視神経を採取することなく研究することが可能になった。さらにOPA1遺伝子変異がもたらすミトコンドリア機能障害が視神経委縮と関連している可能性が高いことから、同様に視神経障害を来す緑内障においてもミトコンドリア機能障害が関連している可能性が示唆される。
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