Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function.

ABSTRACT:

Background

Nebulin is a critical thin filament-binding protein that spans from the Z-disk of the skeletal muscle sarcomere to near the pointed end of the thin filament. Its massive size and actin-binding property allows it to provide the thin filaments with structural and regulatory support. When this protein is lost, nemaline myopathy occurs. Nemaline myopathy causes severe muscle weakness as well as structural defects on a sarcomeric level. There is no known cure for this disease.

Methods

We studied whether sarcomeric structure and function can be improved by introducing nebulin's Z-disk region into a nebulin-deficient mouse model (Neb cKO) through adeno-associated viral (AAV) vector therapy. Following this treatment, the structural and functional characteristics of both v

SUBMITTER: Li F 

PROVIDER: S-EPMC6986074 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature