PDF(Pubmed)
Abstract：
The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers. Recent advances suggest that TPM3 isoforms hold more extensive functions during skeletal muscle development and in postnatal muscle. Additionally, mutations in the TPM3 gene have been associated with the features of congenital myopathies. The use of different in vitro and in vivo model systems has leveraged the discovery of several disease mechanisms associated with TPM3-related myopathy. Yet, the precise mechanisms by which TPM3 mutations lead to muscle dysfunction remain unclear. This review consolidates over three decades of research about the role of TPM3 in skeletal muscle. Overall, the progress made has led to a better understanding of the phenotypic spectrum in patients affected by mutations in this gene. The comprehensive body of work generated over these decades has also laid robust groundwork for capturing the multiple functions this protein plays in muscle fibers.
摘要：
原肌球蛋白基因（TPM1-4）有助于骨骼肌纤维的功能多样性。自1988年发现以来，TPM3基因已被认为是慢肌纤维中肌肉收缩不可或缺的调节剂。最近的进展表明，TPM3同工型在骨骼肌发育和出生后肌肉中具有更广泛的功能。此外,TPM3基因的突变与先天性肌病的特征有关。使用不同的体外和体内模型系统已经利用了与TPM3相关肌病相关的几种疾病机制的发现。然而，TPM3突变导致肌肉功能障碍的确切机制尚不清楚.这篇综述巩固了关于TPM3在骨骼肌中作用的三十多年的研究。总的来说,取得的进展使人们更好地了解受该基因突变影响的患者的表型谱。几十年来产生的全面工作也为捕获这种蛋白质在肌肉纤维中发挥的多种功能奠定了坚实的基础。
