Molecular, Cellular, & Developmental Biology
Dr. Leslie Leinwand
Freeman-Sheldon Syndrome (FSS) is a distal arthrogryposis syndrome causing muscle contractures of the hands, feet, and face, as well as a small oral opening and an H-shaped dimpling of the chin. In addition, complications such as severe scoliosis, strabismus, and hearing loss are often present in patients. The syndrome has been linked to mutations in the embryonic myosin heavy chain gene (Myh3), which encodes the first molecular motor to be expressed during development. However, while the genetic basis of the disease is known, the mechanism by which mutations in Myh3 lead to the physical symptoms of FSS is poorly understood. Here the generation of an inducible skeletal muscle cell system that allows for precise studies of embryonic myosin’s role in developing sarcomeres is described. Using this system, it will be possible to gain a better understanding of the pathogenesis of FSS as caused by mutant embryonic myosin in developing skeletal muscle.
Kokkonen, Kristen, "Engineering of a Cellular Model of Freeman-Sheldon Skeletal Muscle Myopathy" (2013). Undergraduate Honors Theses. 413.