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PHEX, FGF23, DMP1 and beyond
1Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich-Neuherberg, Germany. TimStrom@helmholtz-muenchen.de
Current Opinion in Nephrology and Hypertension
|July 29, 2008
Summary
Novel molecules in the kidney-bone axis regulate phosphate homeostasis. Understanding these mechanisms, particularly involving FGF23, offers new therapeutic strategies for phosphate disorders.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Phosphate homeostasis is tightly regulated by a complex interplay between the kidneys and bones.
- Genetic studies have identified key proteins involved in this intricate regulatory network.
Purpose of the Study:
- To review the biological properties of molecules within the kidney-bone axis that regulate phosphate homeostasis.
- To explore how understanding renal phosphate handling mechanisms can inform novel therapeutic approaches.
Main Methods:
- Review of genetic studies identifying genes and proteins regulating phosphate homeostasis.
- Analysis of the roles of specific proteins like FGF23, KLOTHO, FGFR1, DMP1, PHEX, and GALNT3.
- Examination of the impact of mutations on protein function and phosphate excretion.
Main Results:
- Eight genes crucial for phosphate homeostasis have been identified.
- FGF23, produced by osteocytes, inhibits renal phosphate reabsorption and vitamin D synthesis via KLOTHO/FGFR1.
- Mutations in FGF23, DMP1, PHEX, KLOTHO, and GALNT3 significantly alter phosphate excretion and homeostasis.
Conclusions:
- Rare genetic disorders have revealed essential proteins for renal phosphate regulation.
- The precise interactions between these proteins are not fully elucidated.
- Additional factors likely contribute to the complex regulation of phosphate homeostasis.
