Plenary Session 7
3月27日［土］08:00-09:30
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Genomic medicine approach to cardiomyopathy
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近年、遺伝子解析技術の進歩により、遺伝性心筋症の原因遺伝子が次々と同定されてきている。これまでの古典的な遺伝子変異を検出することによる直接的な機能異常との関連だけでなく、遺伝的背景の違いによる発症のしやすさが変わる、あるいは、予後や薬物療法への応答性が異なるなど、より複雑にその病態に関わっていることが明らかとなり、詳細なゲノム診断によって、さらに個別化された治療へのアプローチが提案できる可能性がでてきた。今後、様々な心筋症の診断と治療において、詳細なゲノム変異、あるいは関連した蛋白やmRNAの変化と病態における役割が明らかになることで、具体的なprecision medicineが可能となってくるであろう。
さらに、近年のゲノム編集技術の現状とそれらの技術を用いたゲノム修復の試みも取り組みがすすんでいる。また、iPSをはじめとする、様々な幹細胞からの分化誘導技術が報告され、難治性心筋症の分子基盤に介入する研究も大幅に進捗している。文字通り心筋再生がその技術的進歩とともに加速され、現実味を帯びてきた。
肥大型心筋症、拡張型心筋症だけでなく、様々な遺伝的背景が関連した二次性心筋症を含めて、その最新の解析技術、治療応用への可能性、臨床へのフィードバックをふまえ、今後、心筋症におけるゲノム医療を現実的にすすめる時代における課題と展望について、基礎、臨床問わず幅広く議論できるシンポジウムとしたい。
Advances in gene analysis techniques have allowed the identification of the causative genes of inherited cardiomyopathy. Genome-associated cardiomyopathy includes not only direct functional associations with gene mutations or deletions but also susceptibility to onset changes due to differences in genetic background as well as prognosis and responsiveness to medical therapy. The complicated role of genome medicine in the pathology of cardiomyopathy is increasingly obvious; thus, more specific approaches may be proposed by detailed individual genomic diagnoses. Furthermore, clarifying the detailed genomic contribution of related proteins or mRNAs may allow the development of specific precision medicine. Genome editing technology, genome engineering, and efforts to repair the genome using various technologies are under development.
In addition, techniques for inducing differentiation from various stem cells into cardiac myocytes, including induced pluripotent stem (iPS) cells, have been developed as potential therapeutic strategies for severe heart failure. Moreover, myocardial regeneration has accelerated with technological progress.
This symposium aims to broadly discuss both basic and clinical issues and prospects in the era of genomic medicine, in terms of the associations with genetic pathogenesis, therapeutics and clinical applications.
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Tomomi Ide
Department of Cardiovascular Medicine, Kyushu University, Fukuoka
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Christine Seidman
Cardiovascular Medicine and Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, USA
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Christine Seidman
Cardiovascular Medicine and Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, USA
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Shuichiro Higo
Department of Medical Therapeutics for Heart Failure, Osaka University Graduate School of Medicine, Suita
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Takeru Makiyama
Department of Community Medicine Supporting System, Kyoto University Graduate School of Medicine, Kyoto
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Megumi Fukuyama
Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu
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Yoshihiro Asano
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita
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