Senior Investigator
NIH NIDCR
Building 30, Room 228 MSC 4320
Bethesda, MD 20892-4320
United States
The mission of the Skeletal Disorders and Mineral Homeostasis Section is to advance the understanding of bone and mineral metabolism through clinical and translational studies of human diseases, and animal models and in vitro systems. The approach is primarily the study of rare diseases that serve as model systems. Clinical observations generate testable hypotheses that lead to basic and clinical studies that elucidate both pathophysiology and physiology and lead to the development of novel evidenced-based treatments. The principle disorders currently under investigation include: 1) fibrous dysplasia of bone/McCune-Albright syndrome (FD/MAS), a disease of the skeletal stem cell caused by activating mutations of the GNAS gene, that encodes the Gsα protein; 2) disorders of the phosphate- and vitamin D-regulating hormone, FGF23; and 3) hypoparathyroidism, a disease of parathyroid hormone (PTH) deficiency that allows for not only the study of the PTH/Gsα/cAMP pathway in bone and mineral metabolism, but also serves as a model in which to study FGF23 physiology.
Dr. Mike Collins did his endocrine training at the NIH in the Interinstitute Endocrine Training Program and his internal medicine residency training, chief residency, and medical school training at the University of Maryland in Baltimore. Dr. Collins has been at the NIH since completing his fellowship training. Areas of investigation include bone biology and mineral metabolism, which are studied through clinical and translational studies. Specific areas of interest include the role of PTH, G-proteins, and cAMP in bone cell biology, and FGF23 in mineral metabolism. The primary approach is the study and treatment of patients with rare disorders of bone and mineral metabolism as models through which to understand human bone and mineral biology and physiology. Current models of focus include fibrous dysplasia of bone, hypoparathyroidism, and disorders of FGF23 excess and deficiency.
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Zhao X, Deng P, Iglesias-Bartolome R, Amornphimoltham P, Steffen DJ, Jin Y, Molinolo AA, de Castro LF, Ovejero D, Yuan Q, Chen Q, Han X, Bai D, Taylor SS, Yang Y, Collins MT, Gutkind JS. Expression of an active Gαs mutant in skeletal stem cells is sufficient and necessary for fibrous dysplasia initiation and maintenance. Proc Natl Acad Sci U S A. 2017 Dec 27. pii: 201713710. doi: 10.1073/pnas.1713710115. [Epub ahead of print]. PMID: 29282319.
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Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL. Hypercementosis Associated with ENPP1 Mutations and GACI. J Dent Res. 2017 Dec 1:22034517744773. doi: 10.1177/0022034517744773. [Epub ahead of print]. PMID: 29244957.
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Tosur M, Collins MT, Ponder SW, Stratakis CA, Karaviti LP, Jeha GS. Persistent Diabetes Mellitus Postadrenalectomy in Neonatal McCune-Albright Syndrome. Glob Pediatr Health. 2017 Nov 21;4:2333794X17742748. doi: 10.1177/2333794X17742748. eCollection 2017. PMID: 29201948.
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Boyce AM, Brewer C, DeKlotz TR, Zalewski CK, King KA, Collins MT, Kim HJ. Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia. JAMA Otolaryngol Head Neck Surg. 2017 Nov 30. doi: 10.1001/jamaoto.2017.2407. [Epub ahead of print]. PMID: 29192304.
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Robinson C, Boyce AM, Estrada A, Kleiner DE, Mathew R, Stanton R, Frangoul H, Collins MT. Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome. Osteoporos Int. 2017 Oct 25. doi: 10.1007/s00198-017-4217-7. [Epub ahead of print]. PMID: 29071359.