Muscular Dystrophy Cooperative Research Center

Scientific Projects

Project 1 explores the “Mouse Muscleblind Model for DM.” Using muscleblind knockout mice and studies of alternative splicing of the skeletal muscle chloride channel, Project 1 examines a toxic RNA model for the myotonic dystrophies. It tests the hypothesis that the abnormally expanded mRNA alleles in DM1 & DM2 sequester certain dsRNA-binding factors, the muscleblind proteins, and that this leads to myotonia and myopathy.

Project 2 investigates a potential new treatment in DM1 and hopes to prove that iPLEX, formerly called SomatoKine, (insulin-like growth factor-1 [IGF1] complexed with recombinant IGF binding protein-3) is safe, well tolerated, and promising as a therapy. This project tests the hypothesis that deficient activation by IGF1 contributes to the atrophy and weakness in DM1, and that maintaining high blood levels of IGF1 will correct this decreased activation.

Project 3 strives to increase our knowledge of the molecular and cellular pathophysiology of FSHD. It uses microarray analysis of muscle biopsy specimens to test two hypotheses: in FSHD: a) deletion of D4Z4 heterochromic repeats does not alter adjacent 4q35 genes; and, b) aberrant overexpression of smooth muscle genes is an important contributor to the pathophysiology.