Endocrine Unit

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Endocrine Unit: Demay Laboratory

The Demay Laboratory is focused on understanding the role of the vitamin D receptor (VDR) in skeletal maturation and in cutaneous homeostasis.
  • Phone: 617-726-3967

Overview

Studies into the effects of the vitamin D signaling pathway in the skeleton have demonstrated that its effects are largely indirect.  It is through its actions on maintaining normal calcium and phosphate levels that it prevents the development of rickets and osteomalacia.  Low phosphate causes rickets by preventing normal maturation of the growth plate. Interestingly, the active form of vitamin D is able to compensate for the effects of low phosphate, promoting normal growth-plate development and maturation.  Investigations in other hypophosphatemic models of rickets, including X- linked hypophosphatemia, are directed at comparing the effectiveness of vitamin D therapy versus other treatments at normalizing growth and preventing rickets in this disorder.

Intriguingly, the effects of the vitamin D signaling pathway that maintain normal regeneration of hair do not require vitamin D but do require the vitamin D receptor (VDR).  Studies are underway to identify actions of this receptor that are required to prevent hair loss and maintain skin homeostasis.

The laboratory uses genetically manipulated mice, as well as cells and tissues isolated from these mice, to study the role of the VDR and the biological consequences of hypophosphatemia. These studies led to the identification of the VDR as a key factor in maintenance of keratinocyte stem cell homeostasis and revealed that the mechanism by which VDR inactivation leads to rickets is due to the development of hypophosphatemia.  These latter studies have led to an additional line of investigation examining the role of phosphate in endochondral bone formation. These studies are being performed in the animal model of X-linked hypophosphatemia.

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Group Members

  • Marie B. Demay, MD, PhD
  • ByongSoo Timothy Chae, BS
  • Frank C. Ko, PhD
  • Eva S. Liu, MD
  • Vaibhav Saini, PhD
  • Lige Song, PhD

Research Projects

Role of the vitamin D receptor in keratinocyte stem-cell function

Role of mineral ions and hormones on growth-plate development and maturation using a model of X-linked hypophosphatemia

PublicationsView recent publications from the laboratory. Some full text articles may require a subscription.

View all Publications in PubMed

Endocrine Unit Research Laboratories

Thier Building
50 Blossom Street
Boston, MA 02114

Phone: 617-726-3967
Fax: 617-726-7543
Hours: 9:00 am - 4:30 pm, M-F

Public Transportation Access: yes
Disabled Access: yes