Emerin plays a multifaceted role in nuclear organization, gene regulation, and cellular signaling, processes essential for myogenic differentiation and linked to EDMD1 disease progression.
Emerin, a ubiquitously expressed inner nuclear membrane protein, plays a central role in maintaining nuclear structure and genomic organization, and in regulating gene expression and cellular signaling pathways. These functions are critical for proper myogenic differentiation and are closely linked to the pathology of Emery-Dreifuss muscular dystrophy 1 (EDMD1), a laminopathy caused by mutations in the EMD gene. Emerin, along with other nuclear lamina proteins, modulates chromatin organization, cell signaling, gene expression, and cellular mechanotransduction, processes essential for muscle development and homeostasis. Loss of emerin function disrupts chromatin localization, causes dysregulated gene expression, and alters nucleoskeletal organization, resulting in impaired myogenic differentiation. Recent findings suggest that emerin tethers repressive chromatin at the nuclear envelope, a process essential for robust myogenesis. This review provides an in-depth discussion of emerin's multifaceted roles in nuclear organization, gene regulation, and cellular signaling, highlighting its importance in myogenic differentiation and disease progression.
Marano et al. (Thu,) conducted a review in Emery-Dreifuss muscular dystrophy 1 (EDMD1). Emerin was evaluated. Emerin plays a multifaceted role in nuclear organization, gene regulation, and cellular signaling, processes essential for myogenic differentiation and linked to EDMD1 disease progression.