Chou Chih-Hsuan, Booth Frank W
College of Veterinary Medicine, University of Missouri, Columbia, MO, USA.
Adv Exp Med Biol. 2025;1478:447-458. doi: 10.1007/978-3-031-88361-3_18.
How loss- or gain-of-function for a gene in skeletal muscle induces muscle phenotypes is an important topic. Two important underlying rationales are: (a) understanding the fundamentals of gene regulations in the skeletal muscle and (b) how they influence physiological and metabolic functions. The knowledge of gene functions in the skeletal muscle is crucial to target the selection of interventions that will promote muscle health, prevent muscle loss, and treat muscle diseases. This chapter briefly introduces current techniques, such as the Cre-LoxP system, and its application with muscle-specific gene promoters. These advances in studying skeletal muscle-specific gene manipulations in animal models consequently broadened our views of muscle phenotypes related to gene regulations. We then summarize some current findings in gene manipulations regarding muscle mass, fiber-type shifting, metabolism, muscle diseases, and exercise performance. Lastly, we discuss the precautions and future directions from the current knowledge. We anticipate that by using numerous examples in this chapter, readers could understand the concepts of genetic engineering contributing to altered skeletal muscle phenotype.
骨骼肌中基因的功能丧失或获得如何诱导肌肉表型是一个重要的课题。两个重要的基本原理是：（a）了解骨骼肌中基因调控的基本原理，以及（b）它们如何影响生理和代谢功能。骨骼肌中基因功能的知识对于靶向选择促进肌肉健康、预防肌肉流失和治疗肌肉疾病的干预措施至关重要。本章简要介绍了当前的技术，如Cre-LoxP系统及其与肌肉特异性基因启动子的应用。这些在动物模型中研究骨骼肌特异性基因操纵的进展，从而拓宽了我们对与基因调控相关的肌肉表型的认识。然后，我们总结了目前在基因操纵方面关于肌肉质量、纤维类型转换、代谢、肌肉疾病和运动表现的一些发现。最后，我们根据当前的知识讨论注意事项和未来方向。我们预计，通过本章中的大量示例，读者能够理解基因工程对改变骨骼肌表型的贡献概念。
