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2019 Fiscal Year Research-status Report

Establishment of high efficient chromosomal aneuploidy rescue method by genome editing in iPS cells

Research Project

Project/Area Number 19K16520
Research InstitutionHiroshima University

Principal Investigator

阿久津 シルビア夏子 (AkutsuSilviaNatsuko)  広島大学, 原爆放射線医科学研究所, 助教 (10822299)

Project Period (FY) 2019-04-01 – 2022-03-31
KeywordsiPS cells / Chromosome / Aneuploidy / Reprogramming / Down syndrome
Outline of Annual Research Achievements

Down's syndrome is the most prevalent chromosomal aneuploidy caused by trisomy 21, but its curative cure has not yet been established. Recently, the possibility of a "chromosomal aneuploidy therapy" in which trisomy 21 is rescued was demonstrated by reprogramming iPS cells. Here, I proposed to reproduce this approach and increase the aneuploidy rescue efficiency that was shown as extremely low, being a major obstacle for future basic research and clinical application of aneuploidy rescue. Currently, I am establishing a highly efficient chromosomal aneuploidy rescue experimental protocol for trisomy disorders.

Current Status of Research Progress
Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

The highly efficient chromosomal aneuploidy rescue experimental protocol is being established for trisomy 21 and another trisomy disorders. Successfully, primary fibroblasts from trisomy disorders showed karyotype rescue after reprogramming to iPS cells. The Fluorescence In situ Hybridization (FISH) and karyotype analysis were performed to confirm the results. The reproducibility results from previous studies have been successfully obtained. The results of this research will be an epoch-making basic technology for the root cure of aneuploidy diseases.

Strategy for Future Research Activity

The next step in the research is to test protocols for rescuing aneuploidies in different cell lines of the same aneuploidy diseases. When the protocol is well established, it will be possible to begin the investigation of the trisomy rescue mechanism during cellular reprogramming.

Causes of Carryover

The next fiscal year, I plan to construct a new detection system targeting different fluorescent dye-expressing genes on chromosome 21 of Down syndrome iPSCs by genome editing to evaluate the rescue of trisomy in the reprogramming process. The results will be presented in the Annual Meeting Society of Genetics.

  • Research Products

    (4 results)

All 2020 2019

All Journal Article (1 results) (of which Int'l Joint Research: 1 results,  Open Access: 1 results) Presentation (3 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results)

  • [Journal Article] Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders2020

    • Author(s)
      Akutsu Silvia Natsuko、Fujita Kazumasa、Tomioka Keita、Miyamoto Tatsuo、Matsuura Shinya
    • Journal Title

      Cells

      Volume: 9 Pages: 239~239

    • DOI

      https://doi.org/10.3390/cells9010239

    • Open Access / Int'l Joint Research
  • [Presentation] The generation of mosaic trisomy 21 model cells using patient cells with full trisomy 21 by trisomy rescue during cell reprogramming and their modification with fluorescent nuclear markers by genome editing technique2019

    • Author(s)
      Silvia Natsuko Akutsu
    • Organizer
      The 65th Brazilian Congress of Genetics
    • Int'l Joint Research / Invited
  • [Presentation] Generation of Down syndrome iPS cells tagged with fluorescence marker in chromosome 21 using genome editing technology2019

    • Author(s)
      Silvia Natsuko Akutsu
    • Organizer
      第64回大会 日本人類遺伝学会 (ポスター発表)
  • [Presentation] CRISPR-ObLiGaRe法を用いたiPS細胞における蛍光核標識によるモザイク・トリソミー21のモデル細胞系の開発2019

    • Author(s)
      Silvia Natsuko Akutsu
    • Organizer
      The 4th Annual Meeting ofthe Japanese Society for Genome Editing(ポスター発表)

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Published: 2022-12-28  

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