Troponin C gene mutations on cardiac muscle cell and skeletal Regulation: A comprehensive review.

Autor: Aborode AT; Department of Research and Development, Healthy Africans Platform, Ibadan, Nigeria. Electronic address: abdullahiaborodet@gmail.com., Olamilekan Adesola R; Department of Veterinary Medicine, Faculty of Veterinary Medicine, University of Ibadan, Ibadan, Nigeria. Electronic address: radesola758@stu.ui.edu.ng., Idris I; Faculty of Veterinary Medicine, Usmanu Danfodiyo University Sokoto, Nigeria. Electronic address: ibrahimvet095@gmail.com., Adio WS; Department of Chemistry and Biochemistry, College of Health and Natural Science, The University of Tulsa, Tulsa, USA. Electronic address: waheedsackson@gmail.com., Scott GY; Department of Medical Diagnostics, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana. Electronic address: gyscott.edu@gmail.com., Chakoma M; Department of Primary Healthcare, Faculty of Medicine and Healthcare, University of Zimbabwe, Zimbabwe. Electronic address: mugovechakoma@gmail.com., Oluwaseun AA; Faculty of Veterinary Medicine, University of Nigeria, Nsukka, Enugu, Nigeria. Electronic address: aderetiseun9@gmail.com., Onifade IA; Department of Biological Sciences, University at Albany, SUNY, USA. Electronic address: isrealonifade@gmail.com., Adeoye AF; Department of Mathematics and Statistics, Georgia State University, Georgia, USA. Electronic address: aadeoye2@gsu.edu., Aluko BA; Department of Statistics, University of Kentucky, Lexington KY, USA. Electronic address: alukotuneday@gmail.com., Abok JI; Department of Chemistry & Chemical Biology University of New Mexico, USA. Electronic address: abokjeremiah@unm.edu.
Jazyk: angličtina
Zdroj: Gene [Gene] 2024 Nov 15; Vol. 927, pp. 148651. Date of Electronic Publication: 2024 Jun 11.
DOI: 10.1016/j.gene.2024.148651
Abstrakt: Background: 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.
Main Body: 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.
Conclusion: 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.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024. Published by Elsevier B.V.)
Databáze: MEDLINE
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