Lauffer Marlen C
Institute of Human Genetics, University Hospital Cologne, Kerpener Str. 34, 50931 Cologne, Germany.
Med Genet. 2021 Dec 3;33(3):261-267. doi: 10.1515/medgen-2021-2085. eCollection 2021 Sep.
Neuromuscular disorders are a heterogeneous group of diseases ranging from mild to devastating phenotypes depending on the disorder's origin. Pathophysiologies for many of these disorders are not fully understood and efficient therapies are urgently needed. Recent advances in the field of induced pluripotent stem cells and organ-on-a-chip technologies have brought enormous improvement in modeling neuromuscular diseases. Even complex units, like the neuromuscular junction, can now be built, enabling researchers to study each component of the motor unit by itself or interacting with others, allowing the identification of disease mechanisms. This article aims to introduce these new modeling systems to study neuromuscular disorders and the possibilities of organ-on-a-chip platforms to shed light on disease pathologies and their use for therapy development.
神经肌肉疾病是一组异质性疾病，根据疾病的起源，其表型从轻度到严重不等。其中许多疾病的病理生理学尚未完全了解，迫切需要有效的治疗方法。诱导多能干细胞和芯片器官技术领域的最新进展为神经肌肉疾病的建模带来了巨大改进。现在甚至可以构建像神经肌肉接头这样的复杂单元，使研究人员能够单独研究运动单位的每个组成部分或其与其他部分的相互作用，从而确定疾病机制。本文旨在介绍这些用于研究神经肌肉疾病的新型建模系统，以及芯片器官平台在阐明疾病病理及其在治疗开发中的应用方面的可能性。
