EVALUATION OF FUKUTIN RELATED PROTEIN MUSCULAR DYSTROPHY

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Mutations in the putative glycosyltransferase fukutin related protein (FKRP) result in muscular dystrophy with a very wide range of clinical phenotypes. Our long-term goal is to develop therapeutic strategies for the treatment of FKRP muscular dystrophies. To achieve this goal, we must first study the genetic and non-genetic determinants of variability in the clinical course of FKRP-related muscular dystrophies (FKRP-MDs) to better understand the basis for individual variability, formulate clinical recommendations, and generate ideas for new therapies. Defining the clinical variability in this group of diseases is also a necessary baseline before therapeutic trials can be developed. We will also generate a mouse model for FKRP muscular dystrophy to study the pathogenic events underlying disease progression, provide a model to study the impact of non-genetic variables on disease heterogeneity, and enable the assessment of potential therapeutic strategies.