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関連する概念動画

Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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Mutations01:39

Mutations

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Overview
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Termination of Translation01:44

Termination of Translation

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The large ribosomal subunit has several important structures essential to translation. These include the peptidyl transferase center (PTC) - which is the site where the peptide bond is formed - and a large, internal, water-filled tube through which the nascent polypeptide moves. This latter structure is called the Peptide Exit Tunnel, and it begins at the PTC and spans the body of the large ribosomal subunit. During translation, as the nascent polypeptide chain is synthesized, it passes through...
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Radioactive Decay and Radiometric Dating02:48

Radioactive Decay and Radiometric Dating

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Radioactivity is a spontaneous disintegration of an unstable nuclide and is a random process, as all the nuclei in the sample do not decay simultaneously. The number of disintegrations per unit time is called the activity (A), which is directly proportional to the number of nuclei in the sample. The decay constant (λ) is an average probability of decay per nucleus in unit time.
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関連する実験動画

Updated: Jan 31, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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MYBPC3における早発性コドン変異は,無意味な媒介による慢性的な衰退の活性化による高縮性心筋病を引き起こす

Timon Seeger1,2, Rajani Shrestha1,2, Chi Keung Lam1,2

  • 1Stanford Cardiovascular Institute (T.S., R.S., C.K.L., C.C., W.L.M., E.L., A.W., M.G, J.L., A.O., S.L., H.Y., M.M., M.W., E.A.A., I.K., J.C.W.), Stanford University School of Medicine, CA.

Circulation
|December 28, 2018
PubMed
まとめ

MYBPC3の変異は,無感覚媒介の衰退を活性化して,心臓細胞の異常なカルシウム処理を引き起こします. この経路を阻害することで 患者の細胞の心臓機能が正常化しました

キーワード:
心筋細胞ハイパルトロフィック心筋病

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Tachycardia-Induced Cardiomyopathy As a Chronic Heart Failure Model in Swine
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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関連する実験動画

Last Updated: Jan 31, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Tachycardia-Induced Cardiomyopathy As a Chronic Heart Failure Model in Swine
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Tachycardia-Induced Cardiomyopathy As a Chronic Heart Failure Model in Swine

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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科学分野:

  • 心血管生物学
  • 幹細胞生物学
  • 分子遺伝学

背景:

  • ハイパルトロフィック心筋病 (HCM) は,MYBPC3の変異によって引き起こされ,早期終結コドン (PTC) に繋がります.
  • MYBPC3 PTC変異がHCMを誘発する正確なメカニズムは不明である.
  • この研究では,ヒト誘発性多能幹細胞由来心筋細胞 (iPSC-CMs) を使用して,MYBPC3 PTC変異に関連したHCMの分子病原性を調査しています.

研究 の 目的:

  • MYBPC3 PTC変異媒体のHCM病原性の基礎にある分子メカニズムを解明する.
  • HCMの発達における異常なカルシウム処理と遺伝子発現の役割を調査する.
  • HCMに対するMYBPC3ハプロイン不全の寄与を決定する.

主な方法:

  • MYBPC3 PTC変異を有するHCM患者の同位性IPSCラインの生成は,ゲノム編集によるものです.
  • iPSC-CMの包括的なフェノタイプとトランスクリプトーム解析
  • 無意味媒介性衰退 (NMD) 経路の役割と治療的抑制の調査.

主要な成果:

  • HCM iPSC-CMは,構造的または収縮的欠陥なしに,長時間的な衰退と高まった腹筋カルシウムとの異常なカルシウム処理を示した.
  • 減少したMYBPC3mRNAですが,比較可能なタンパク質レベルは,有意なMYBPC3ハプロイン不足を示していません.
  • 無意味な腐敗経路の活性化と異常な心臓遺伝子発現が観察され, in vitro HCM シグネチャーを構成しました.
  • NMDの抑制により,分子フェノタイプが逆転し,カルシウム処理が正常化しました.

結論:

  • iPSC- CMにおけるMYBPC3 PTC変異は,MYBPC3ハプロイン不全とは無関係に異常なカルシウムシグナル伝達と分子不調を引き起こします.
  • この研究は,無意味媒介による衰退経路の慢性的な活性化とHCMの発達を直接関連付ける最初の証拠を提供します.
  • NMD経路をターゲットにすることは,HCMの潜在的な治療戦略を提供します.