| Grant number: | 11/50495-0 |
| Support Opportunities: | Regular Research Grants |
| Start date: | July 01, 2011 |
| End date: | December 31, 2013 |
| Field of knowledge: | Biological Sciences - Biochemistry - Enzymology |
| Principal Investigator: | Nilana Meza Tenório de Barros Jaggi |
| Grantee: | Nilana Meza Tenório de Barros Jaggi |
| Host Institution: | Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil |
| City of the host institution: | São Paulo |
Abstract
The PHEX gene (phosphate-regulating gene with homologies to endopeptidase on the X chromosome) was initialIy identified as the gene mutated in patients with a prevalent form (1:20,000) of human hereditary rickets called X-Linked Hypophosphatemia (X -linked hypophosphataemia - XLH) and resuIts in a membrane metallopeptidase with high homology to the eprilysin (NEP). The XLH is characterized by defects in the phosphate reabsorption and vitamin D metabolism and the patients with this disorder typically exhibit growth retardation, rickets, dental abscess, osteomalacia and defects in bone mineralization. However, it still remains unknown how the PHEX / PHEX (gene / protein) can generate the clinical and biochemical characteristics in patients with XLH and in "Hyp mo use". The aim of this project is to advance in characterization and knowledge of physiological function of PHEX. Based in some preliminary data from our laboratory, we will foeus on identifying its natural substrates, investigating their possible involvement in tumor proliferation and the involvement of PHEX in differentiation process of osteoblasts. We also propose an effective biochemical characterization, the development of selective substrates and inhibitors for PHEX. (AU)
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