Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.

ABSTRACT: One of the most prevalent types of congenital myopathy is nemaline myopathy (NM), which is recognized by histopathological examination of muscle fibers for the presence of "nemaline bodies" (rods). Mutations in the actin alpha 1 (ACTA1) and nebulin (NEB) genes result in the most prevalent types of NM. Muscle weakness and hypotonia are the main clinical characteristics of this disease. Unfortunately, the pathogenetic mechanisms are still unknown, and there is no cure. In previous work, we showed that actin filament polymerization defects in patient-derived fibroblasts were associated with mitochondrial dysfunction. In this manuscript, we examined the pathophysiological consequences of mitochondrial dysfunction in patient-derived fibroblasts. We analyzed iron and lipofuscin acc

SUBMITTER: Lopez-Cabrera A 

PROVIDER: S-EPMC11855326 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature