Use of animal models to understand titin physiology and pathology. Issue 20 (6th September 2022)

• Record Type: Journal Article
• Authors: Marcello, Matteo; Cetrangolo, Viviana; Savarese, Marco; Udd, Bjarne
• Is Part Of: Journal of cellular and molecular medicine. Volume 26:Issue 20(2022)
• Page Start: 5103
• Page End: 5112
• Publication Date: 2022-09-06
• Subjects: animal models -- congenital myopathy -- dilated cardiomyopathy -- mdm -- medaka -- mice -- titin -- zebrafish; Cytology; Medicine; Molecular Biology; Cytologie -- Périodiques; Médecine -- Périodiques; Biologie moléculaire -- Périodiques; Cytology -- Periodicals; Medicine -- Periodicals; Molecular biology -- Periodicals; 611.01805
• DOI: 10.1111/jcmm.17533
• Languages: English
• ISSNs: 1582-1838

Abstract

Abstract: In recent years, increasing attention has been paid to titin ( TTN ) and its mutations. Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the same time, TTNtv and few missense variants have been identified in patients with mainly recessive skeletal muscle diseases. The pathogenic mechanisms underlying titin‐related diseases are still partly unknown. Similarly, the titin mechanical and functional role in the muscle contraction are far from being exhaustively clarified. In the last few years, several animal models carrying variants in the titin gene have been developed and characterized to study the structural and mechanical properties of specific titin domains or to mimic patients' mutations. This review describes the main animal models so far characterized, including eight mice models and three fish models (Medaka and Zebrafish) and discusses the useful insights provided by a thorough characterization of the cell‐, tissue‐ and organism‐phenotypes in these models.