Suppr超能文献

人多能干细胞衍生的心肌细胞能否促进对肌肉疾病的理解?

Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?

机构信息

Department of Stem Cell Biology, Centre for Biomolecular Sciences, University of Nottingham, UK.

Dubowitz Neuromuscular Centre, Department of Molecular Neurosciences, University College London - Institute of Child Health, London, UK.

出版信息

J Neuromuscul Dis. 2016 Aug 30;3(3):309-332. doi: 10.3233/JND-150133.

Abstract

Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles. Cardiac disease is present in several MDs where it is an important contributor to morbidity and mortality. Careful monitoring of cardiac issues is necessary but current management of cardiac involvement does not effectively protect from disease progression and cardiac failure. There is a critical need to gain new knowledge on the diverse molecular underpinnings of cardiac disease in MDs in order to guide cardiac treatment development and assist in reaching a clearer consensus on cardiac disease management in the clinic. Animal models are available for the majority of MDs and have been invaluable tools in probing disease mechanisms and in pre-clinical screens. However, there are recognized genetic, physiological, and structural differences between human and animal hearts that impact disease progression, manifestation, and response to pharmacological interventions. Therefore, there is a need to develop parallel human systems to model cardiac disease in MDs. This review discusses the current status of cardiomyocytes (CMs) derived from human induced pluripotent stem cells (hiPSC) to model cardiac disease, with a focus on Duchenne muscular dystrophy (DMD) and myotonic dystrophy (DM1). We seek to provide a balanced view of opportunities and limitations offered by this system in elucidating disease mechanisms pertinent to human cardiac physiology and as a platform for treatment development or refinement.

摘要

肌肉萎缩症(MDs)是一组临床和分子上高度异质的单基因疾病,主要影响横纹肌。几种 MD 都存在心脏疾病,它是发病率和死亡率的重要因素。需要仔细监测心脏问题,但目前对心脏受累的管理并不能有效地防止疾病进展和心力衰竭。为了指导心脏治疗的发展,并协助在临床上对心脏疾病的管理达成更明确的共识,迫切需要获得关于 MD 中心脏疾病的不同分子基础的新知识。大多数 MD 都有动物模型,这些模型是研究疾病机制和临床前筛选的宝贵工具。然而,人类和动物心脏之间存在公认的遗传、生理和结构差异,这些差异会影响疾病的进展、表现和对药物干预的反应。因此,需要开发平行的人类系统来模拟 MD 中的心脏疾病。这篇综述讨论了源自人类诱导多能干细胞(hiPSC)的心肌细胞(CMs)用于模拟心脏疾病的现状,重点讨论了杜氏肌营养不良症(DMD)和强直性肌营养不良症(DM1)。我们试图提供一个平衡的观点,说明该系统在阐明与人类心脏生理学相关的疾病机制以及作为治疗开发或改进的平台方面提供的机会和限制。

相似文献

1
Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?
J Neuromuscul Dis. 2016 Aug 30;3(3):309-332. doi: 10.3233/JND-150133.
5
Hereditary muscular dystrophies and the heart.
Neuromuscul Disord. 2010 Aug;20(8):479-92. doi: 10.1016/j.nmd.2010.04.008.
6
Amelioration of intracellular Ca regulation by exon-45 skipping in Duchenne muscular dystrophy-induced pluripotent stem cell-derived cardiomyocytes.
Biochem Biophys Res Commun. 2019 Nov 26;520(1):179-185. doi: 10.1016/j.bbrc.2019.09.095. Epub 2019 Oct 1.
8
Generation of microRNA-378a-deficient hiPSC as a novel tool to study its role in human cardiomyocytes.
J Mol Cell Cardiol. 2021 Nov;160:128-141. doi: 10.1016/j.yjmcc.2021.07.007. Epub 2021 Jul 28.
10
Stem Cell-Derived Cardiomyocytes and Beta-Adrenergic Receptor Blockade in Duchenne Muscular Dystrophy Cardiomyopathy.
J Am Coll Cardiol. 2020 Mar 17;75(10):1159-1174. doi: 10.1016/j.jacc.2019.12.066.

引用本文的文献

1
Induced pluripotent stem cells derived cardiomyocytes from Duchenne Muscular Dystrophy patients in vitro.
Pak J Med Sci. 2021 Sep-Oct;37(5):1376-1381. doi: 10.12669/pjms.37.5.3104.
2
Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling.
Pflugers Arch. 2021 Jul;473(7):1099-1115. doi: 10.1007/s00424-021-02589-0. Epub 2021 Jun 24.
4
Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies.
Int J Mol Sci. 2020 Jan 22;21(3):733. doi: 10.3390/ijms21030733.
5
Targeting angiogenesis in Duchenne muscular dystrophy.
Cell Mol Life Sci. 2019 Apr;76(8):1507-1528. doi: 10.1007/s00018-019-03006-7. Epub 2019 Feb 15.
7
Cells of Matter- Models for Myotonic Dystrophy.
Front Neurol. 2018 May 23;9:361. doi: 10.3389/fneur.2018.00361. eCollection 2018.
8
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.
Toxicol Pathol. 2017 Oct;45(7):961-976. doi: 10.1177/0192623317734823. Epub 2017 Oct 3.

本文引用的文献

1
A Broad Overview and Review of CRISPR-Cas Technology and Stem Cells.
Curr Stem Cell Rep. 2016;2(1):9-20. doi: 10.1007/s40778-016-0037-5. Epub 2016 Feb 11.
2
Symptomatic Trifascicular Block in Steinert's Disease: Is It Too Soon for a Pacemaker?
Case Rep Cardiol. 2016;2016:6372181. doi: 10.1155/2016/6372181. Epub 2016 Feb 28.
3
Maturation status of sarcomere structure and function in human iPSC-derived cardiac myocytes.
Biochim Biophys Acta. 2016 Jul;1863(7 Pt B):1829-38. doi: 10.1016/j.bbamcr.2015.11.005. Epub 2015 Nov 11.
4
Cardiomyocytes from human pluripotent stem cells: From laboratory curiosity to industrial biomedical platform.
Biochim Biophys Acta. 2016 Jul;1863(7 Pt B):1728-48. doi: 10.1016/j.bbamcr.2015.10.014. Epub 2015 Oct 31.
5
Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction.
Dis Model Mech. 2015 Dec;8(12):1569-78. doi: 10.1242/dmm.021428. Epub 2015 Oct 29.
6
Dystrophin-deficient large animal models: translational research and exon skipping.
Am J Transl Res. 2015 Aug 15;7(8):1314-31. eCollection 2015.
7
Nanopatterned Human iPSC-based Model of a Dystrophin-Null Cardiomyopathic Phenotype.
Cell Mol Bioeng. 2015 Sep;8(3):320-332. doi: 10.1007/s12195-015-0413-8.
8
Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
PLoS One. 2015 Sep 4;10(9):e0137620. doi: 10.1371/journal.pone.0137620. eCollection 2015.
10
Expansion and patterning of cardiovascular progenitors derived from human pluripotent stem cells.
Nat Biotechnol. 2015 Sep;33(9):970-9. doi: 10.1038/nbt.3271. Epub 2015 Jul 20.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验