Mutation-specific effects on thin filament length in thin filament myopathy.

ABSTRACT:

Objective

Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve the length of the thin filament, an important determinant of force generation.

Methods

We investigated the sarcomere length-dependence of force, a functional assay that provides insights into the contractile strength of muscle fibers as well as the length of the thin filaments, in muscle fibers from 51 patients with thin filament myopathy caused by mutations in NEB, ACTA1, TPM2, TPM3, TNNT1, KBTBD13, KLHL40, and KLHL41.

Results

Lower force generation was observed in muscle

SUBMITTER: Winter JM 

PROVIDER: S-EPMC4911820 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature