2018 Fiscal Year Final Research Report
Deciphering Novel Disease Mechanism in Familial Hypertrophic Cardiomyopathy
| Project/Area Number |
17K15772
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Laboratory medicine
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| Research Institution | Kanazawa University |
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Principal Investigator |
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| Research Collaborator |
Yoshida Shohei
Hosomichi Kazuyoshi
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Keywords | 肥大型心筋症 / 次世代シークエンサー / ゲノム / オミックス解析 |
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| Outline of Final Research Achievements |
The aim of this study was to elucidate a novel pathogenesis mechanism of hypertrophic cardiomyopathy (HCM) by omics analyses combining DNA- and RNA-sequences in patients whose causal genetic mutations had not yet detected.
In this study, we established a method to extract messenger RNAs from micro myocardial biopsy specimens. I applied this method with omics approach (combining DNA and RNA sequencing data together) to eight patients with HCM. However, we could not prove the novel mechanism of HCM with regard to splice variants that altered the targeted gene expression. I will increase the number of HCM participants applying this method to detect the splice altering variant-induced HCM.
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| Free Research Field |
循環器内科学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究により、臨床的に行われている心筋生検の検体から、効率的にメッセンジャーRNAを抽出し、解析ができるスキームを樹立できた。本研究で用いた8名の肥大型心筋症の検討のみでは、当初期待していたスプライス変異を機序とした肥大型心筋症の発症の証明には至らなかった。しかし、今後はその解析対象および人数を増やすことで、将来的には同機序を発症原因とした心筋症を見つけうるものと考えられる。
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