Lifestyle
Extracellular matrix and muscular dystrophy
Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, including Muscle Eye Brain Disease. One of the defining aspects of these disorders is the hypoglycosylation of alpha dystroglycan which alters the ability of this peripheral membrane protein to efficiently bind to extracellular matrix components such as laminin alpha 2, agrin and perlecan.
The resulting basement membrane fragility is thought to be central to the pathogenesis of these disorders. Our current work concentrates on the role of alpha dystroglycan in determining tissue specific differences in basement membrane formation which may contribute to the disease process.
The people in this group are Dr Susan Brown, Ms Charlotte Whitmore and Ms Attia Ashraf.