Date of Completion
Dr. David J. Goldhamer
Molecular and Cell Biology
Cell Biology | Developmental Biology | Disease Modeling | Molecular Genetics | Musculoskeletal Diseases
FOP is a rare genetic disorder in which skeletal muscle and associated connective tissue progressively turn to bone through a process called heterotopic ossification (HO). The extra skeletal bone growth is cumulative, eventually trapping patients in a second skeleton that eventually leads to death by asphyxiation. The FOP mutation is autosomal dominant that can be inherited or acquired sporadically. Unfortunately, FOP is currently incurable with no therapeutic options to inhibit bone growth or reduce existing bone nodules. My project intends to further our understanding of the cellular mechanisms of the disease within the tongue muscle. A population of cells known to be an origin of HO resides in the skeletal muscle of the tongue, but patients have clinically never been afflicted with HO in the tongue. The goal of this research is to consider the cellular environment of the tongue and the population of cells that reside there as possible inhibiting factors for bone growth. Using an FOP accurate mouse model, experiments priming the tissue for HO found that chemical injury in the presence of a specific cell population induced HO in the tongue. Cross transplantation experiments confirmed this finding. Further analysis into the heterogenous population of causal cells in the tongue is necessary.
Backal, Amy; Harrop, Amanda; and Goldhamer, David J. Dr., "The Effect of Fibrodysplasia Ossificans Progressiva on the Tongue" (2022). Honors Scholar Theses. 866.