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関連する概念動画

Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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Covalently Linked Protein Regulators02:04

Covalently Linked Protein Regulators

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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein....
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Mutations01:39

Mutations

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Overview
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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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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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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このページは機械翻訳されています。他のページは英語で表示される場合があります。View in English
  1. ホーム
  2. 研究分野
  3. 生物医学と臨床科学
  4. 心血管医学と血液学
  5. 心臓病 (心血管疾患を含む)
  6. Pdgf経路の活性化は,lmna変異と拡張性心筋病を関連付けています.
  1. ホーム
  2. 研究分野
  3. 生物医学と臨床科学
  4. 心血管医学と血液学
  5. 心臓病 (心血管疾患を含む)
  6. Pdgf経路の活性化は,lmna変異と拡張性心筋病を関連付けています.

関連する実験動画

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo
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A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo

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PDGF経路の活性化は,LMNA変異と拡張性心筋病を関連付けています.

Jaecheol Lee1,2,3,4, Vittavat Termglinchan5,6,7, Sebastian Diecke8,9,10

  • 1Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA. jaecheol@skku.edu.

Nature
|July 19, 2019

PubMed で要約を見る

まとめ
この要約は機械生成です。

Lamin A/C (LMNA) 遺伝子の変異は,拡張性心筋病 (DCM) を引き起こします. 血小板由来成長因子 (PDGF) 経路をターゲットにすることで,この遺伝性心疾患を治療することができます.

さらに関連する動画

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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関連する実験動画

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo
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A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo

Published on: May 16, 2020

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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

Published on: February 17, 2018

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科学分野:

  • 心血管生物学
  • 幹細胞生物学
  • 遺伝学

背景:

  • Lamin A/C (LMNA) 遺伝子の変異は,遺伝性拡張性心筋病 (DCM) の頻繁な原因である.
  • LMNAに関連したDCMは,シストリック機能の障害と心律動乱によって特徴付けられます.
  • 患者特有の誘発性多能幹細胞由来心筋細胞 (iPSC-CMs) は,疾患メカニズムを研究するためのモデルを提供します.

研究 の 目的:

  • LMNAに関連するDCMの基礎となる細胞メカニズムを,患者由来のiPSC-CMを用いて調査する.
  • LMNAに関連するDCMの潜在的治療標的を特定する.

主な方法:

  • LMNA変異の患者からiPSC- CMを生成する.
  • 単細胞レベルで心臓機能を評価する電気生理学的研究
  • iPSC-CMにおける血小板由来成長因子 (PDGF) を含む信号伝達経路の分析

主要な成果:

  • 変異したiPSC-CMは異常なカルシウムホメオスタシスを示し,単細胞不律を引き起こした.
  • LMNA変異を有するiPSC- CMでは,血小板由来成長因子 (PDGF) 信号伝達経路が活性化されました.
  • PDGF経路の阻害は,不規則な表型を in vitro で改善した.

結論:

  • 異常なPDGF経路の活性化は,LMNA関連のDCMの病原化に寄与する.
  • PDGF受容体-β (PDGFRB) は,LMNA関連のDCMの潜在的な治療標的である.