A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin.

ABSTRACT: Actin is a highly expressed protein in eukaryotic cells and is essential for numerous cellular processes. In particular, efficient striated muscle contraction is dependent upon the precise regulation of actin-based thin filament structure and function. Alterations in the lengths of actin-thin filaments can lead to the development of myopathies. Leiomodins and tropomodulins are members of an actin-binding protein family that fine-tune thin filament lengths, and their dysfunction is implicated in muscle diseases. An Lmod3 mutation [G326R] was previously identified in patients with nemaline myopathy (NM), a severe skeletal muscle disorder; this residue is conserved among Lmod and Tmod isoforms and resides within their homologous leucine-rich repeat (LRR) domain. We mutated this glycine to arg

SUBMITTER: Schultz LE 

PROVIDER: S-EPMC10665800 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature