Chapter 78 - Immunological Components of Genetically Inherited Muscular Dystrophies: Duchenne Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 2B

Abstract

The genetically inherited muscular dystrophies include the X-linked dystrophinopathies and the limb girdle muscular dystrophies (LGMDs). Two of these genetically inherited muscular dystrophies – Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy type 2B (LGMD2B) – show significantly increased skeletal muscle inflammation and fibrosis. Dystrophin-deficient muscle can be considered to recapitulate a chronically healing wound, due to the repeated damage to the cell membrane and elevation of inflammatory mediators. In DMD both pro-inflammatory and anti-inflammatory cell types and cytokines are present at elevated levels. In LGMD2B, membrane repair is impaired and both inflammasome and complement activation appear to be primary components of the immune response. This chapter discusses key mechanisms and therapeutic targets involved in inflammation in these two muscular dystrophies, and demonstrates the link between inflammation and development of fibrosis in muscular dystrophy.