Department of Research and Development, Healthy Africans Platform, Ibadan, Nigeria.
Department of Veterinary Medicine, Faculty of Veterinary Medicine, University of Ibadan, Ibadan, Nigeria.
Gene. 2024 Nov 15;927:148651. doi: 10.1016/j.gene.2024.148651. Epub 2024 Jun 11.
The troponin complex plays a crucial role in regulating skeletal and cardiac contraction. Congenital myopathies can occur due to several mutations in genes that encode skeletal troponin. Moreover, there is limited information regarding the composition of skeletal troponin. This review specifically examines a comprehensive review of the TNNC gene mutations on cardiac and skeletal regulations.
Troponin C (TNNC) has been linked to a newly discovered inherited muscle disorder. Genetic variations in genes that encode skeletal troponin can impair the function of sarcomeres. Various treatment approaches have been employed to mitigate the impact of variations, including the use of troponin activators, the injection of wild-type protein via AAV gene therapy, and myosin modification to enhance muscle contraction. The processes responsible for the pathophysiological implications of the variations in genes that encode skeletal troponin are not fully understood.
This comprehensive review will contribute to the understanding of the relationship between human cardiomyopathy and TNNC mutations and will guide the development of therapy approaches.
肌钙蛋白复合物在调节骨骼和心肌收缩方面起着至关重要的作用。由于编码骨骼肌肌钙蛋白的几个基因突变，可能会发生先天性肌病。此外，骨骼肌肌钙蛋白的组成信息有限。本综述专门研究了 TNNC 基因突变对心脏和骨骼调节的全面综述。
肌钙蛋白 C（TNNC）与一种新发现的遗传性肌肉疾病有关。编码骨骼肌肌钙蛋白的基因突变会损害肌节的功能。已经采用了各种治疗方法来减轻变异的影响，包括使用肌钙蛋白激活剂、通过 AAV 基因治疗注射野生型蛋白以及肌球蛋白修饰以增强肌肉收缩。导致编码骨骼肌肌钙蛋白的基因突变的病理生理影响的过程尚不完全清楚。
本综述将有助于理解人类心肌病与 TNNC 突变之间的关系，并为治疗方法的发展提供指导。
