Reviewing the Primary Literature of FOP

Author: Andrew Rice

After diving into the literature of fibrodysplasia ossificans progressiva (FOP), I have begun to understand this debilitating disease. The sources I have collected will be placed into the following broad categories.

  1. Clinical FOP

To craft a presentation of this body of literature that will be accessible to a wide audience, I will need to start broadly. A couple of papers I have found discuss FOP in very macroscopic, accessible ways (Stein et al. 2018; Tian, Zhu, and Lu 2018). I believe these papers to be critically important in providing a solid foundation for my non-scientist audience on which I can build. Review articles may also be used in this portion of the project to begin introducing the disease.

  1. Mechanistic Elucidation

The biochemical mechanism by which FOP acts is complex and, while still not fully understood, it has explored in great detail by various papers (Lees-Shepard et al. 2018; Upadhyay et al. 2017; Hatsell et al. 2015). FOP is primarily caused by a mutation in the ACVR1 gene, specifically R206H. This mutation results in an overamplification of BMP signaling at inappropriate times and this causes ossification. These studies are important because without them, I would be unable to properly discuss the previous direction of the field of FOP study, as well as the specifics regarding the pathophysiology of this disease.

  1. Experimental Approaches & Treatment

How we study this disease is important. Without common model systems and methods, the field wouldn’t be where it is today. Various animal models have been used to study this disease, including mouse models, zebrafish models, and drosophila models.  I plan to discuss the plethora of animal and other experimental models used to explore FOP, as well as the current treatment options available to patients. This will allow my audience to appreciate the methodology used to study FOP.

  1. Future Work and Promising New Insight

I hope to end this paper at the forefront of discovery regarding FOP. To do so, I have gathered sources that have come out very recently that propose new methods of treatment, new systems that may be affected by this disease, etc. While potentially theoretical and abstract, this portion of my review will bring my readers ‘up to speed’ with what exactly is going on with FOP right now.

References Used:

Stein, Susan, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, and Toni Mathieson. “Principles for Interactions with Biopharmaceutical Companies: The Development of Guidelines for Patient Advocacy Organizations in the Field of Rare Diseases.” Orphanet Journal of Rare Diseases 13, no. 1 (January 22, 2018): 18. https://doi.org/10.1186/s13023-018-0761-2.
Tian, Shengjie, Jianhua Zhu, and Yaogang Lu. “Difficult Diagnosis and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report.” BMC Medical Genetics 19, no. 1 (February 27, 2018): 30. https://doi.org/10.1186/s12881-018-0543-7.
Lees-Shepard, John B., Masakazu Yamamoto, Arpita A. Biswas, Sean J. Stoessel, Sarah-Anne E. Nicholas, Cathy A. Cogswell, Parvathi M. Devarakonda, et al. “Activin-Dependent Signaling in Fibro/Adipogenic Progenitors Causes Fibrodysplasia Ossificans Progressiva.” Nature Communications 9, no. 1 (February 2, 2018): 471. https://doi.org/10.1038/s41467-018-02872-2.
Hatsell, Sarah J., Vincent Idone, Dana M. Alessi Wolken, Lily Huang, Hyon J. Kim, Lili Wang, Xialing Wen, et al. “ACVR1R206H Receptor Mutation Causes Fibrodysplasia Ossificans Progressiva by Imparting Responsiveness to Activin A.” Science Translational Medicine 7, no. 303 (September 2, 2015): 303ra137. https://doi.org/10.1126/scitranslmed.aac4358.
Upadhyay, Jaymin, LiQin Xie, Lily Huang, Nanditha Das, Rachel C. Stewart, Morgan C. Lyon, Keryn Palmer, et al. “The Expansion of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva Is Activin A-Dependent.” Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research 32, no. 12 (December 2017): 2489–99. https://doi.org/10.1002/jbmr.3235.

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