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          NIAMS Scientific Advances
          Possible Mechanism of a Rare Bone Overgrowth Disease Identified








NIAMS Advances


Possible Mechanism of a Rare Bone Overgrowth Disease Identified September 22, 2023
                                TRANSLATIONAL
        Timothy Bhattacharyya, M.D.
                                          |
              Clinical and Investigative Orthopedics Surgery Unit
                                          |
              NIAMS IRP
        DescriptionNIAMS scientists have successfully created a model to study a rare bone disorder called melorheostosis. They took skin cells from people with this condition, converted them into stem cells, (e.g., induced pluripotent stem cells or iPSCs) and found that these cells had increased activity of a specific protein called MEK1, leading to excessive bone growth. This overgrowth appears to be driven by the release of a growth factor called VEGF. By modifying VEGF activity, researchers hope to find a potential treatment for this rare disease. This approach of using iPSCs could also be applied to study other rare bone disorders.What is exciting about this article?Melorheostosis is a debilitating disease with no treatment. The knowledge gained from this study opens the door to exploring potential treatments by targeting VEGF activity with the anti-cancer drug bevacizumab. Furthermore, the use of iPSCs in this research could have broader applications for studying and treating other rare bone diseases, making it an exciting development in the field of rare disease research.Grant supportAR041180
        Research Areas:
            Cell Biology
      Epidemiology
      Genetics and Genomics
      Molecular Biology and Biochemistry
      Stem Cell Biology
                                        Reference:
            VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.

    Allbritton-King JD, Maity J, Patel A, Colbert RA, Navid F, Bhattacharyya T
        

                    J Bone Miner Res.
        
                    2023 Dec;
        
                    38(12).
        
                    doi: 10.1002/jbmr.4915
                            PMID: 37737377
        Research reported in this publication was supported by the Intramural Research Program of the NIHʼs National Institute of Arthritis and Musculoskeletal and Skin Diseases.
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