Dysregulation of matricellular proteins is an early signature of pathology in laminin-deficient muscular dystrophy.

ABSTRACT:

Background

MDC1A is a congenital neuromuscular disorder with developmentally complex and progressive pathologies that results from a deficiency in the protein laminin α2. MDC1A is associated with a multitude of pathologies, including increased apoptosis, inflammation and fibrosis. In order to assess and treat a complicated disease such as MDC1A, we must understand the natural history of the disease so that we can identify early disease drivers and pinpoint critical time periods for implementing potential therapies.

Results

We found that DyW mice show significantly impaired myogenesis and high levels of apoptosis as early as postnatal week 1. We also saw a surge of inflammatory response at the first week, marked by high levels of infiltrating macrophages, nuclear factor κB ac

SUBMITTER: Mehuron T 

PROVIDER: S-EPMC4114446 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature