The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.

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Abstrakt

Tytuł:: The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.
Autorzy:: Papadopoulou A; Third Department of Pediatrics, University General Hospital 'ATTIKON', Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece.
Bountouvi E; Third Department of Pediatrics, University General Hospital 'ATTIKON', Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece.
Karachaliou FE; Third Department of Pediatrics, University General Hospital 'ATTIKON', Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece.
Źródło:: Genes [Genes (Basel)] 2021 May 13; Vol. 12 (5). Date of Electronic Publication: 2021 May 13.
Typ publikacji:: Journal Article; Review
Język:: English
Imprint Name(s):: Original Publication: Basel : MDPI
MeSH Terms:: Calcium Metabolism Disorders/*genetics
Phosphorus Metabolism Disorders/*genetics
Animals ; Calcium/metabolism ; Calcium Metabolism Disorders/metabolism ; Calcium Metabolism Disorders/pathology ; Fibroblast Growth Factor-23 ; Humans ; Mutation ; Phosphorus/metabolism ; Phosphorus Metabolism Disorders/metabolism ; Phosphorus Metabolism Disorders/pathology
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Contributed Indexing:: Keywords: Calcium Sensing Receptor (CaSR); Fibroblast growth factor 23 (FGF23); Parathyroid hormone (PTH); Vitamin D; Vitamin D Receptor (VDR); calcium metabolism; phosphorus metabolism; rare diseases
Substance Nomenclature:: 0 (FGF23 protein, human)
27YLU75U4W (Phosphorus)
7Q7P4S7RRE (Fibroblast Growth Factor-23)
SY7Q814VUP (Calcium)
Entry Date(s):: Date Created: 20210602 Date Completed: 20210823 Latest Revision: 20211204
Update Code:: 20240104
PubMed Central ID:: PMC8153134
DOI:: 10.3390/genes12050734
PMID:: 34068220
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Calcium (Ca) and Phosphorus (P) hold a leading part in many skeletal and extra-skeletal biological processes. Their tight normal range in serum mirrors their critical role in human well-being. The signalling "voyage" starts at Calcium Sensing Receptor (CaSR) localized on the surface of the parathyroid glands, which captures the "oscillations" of extracellular ionized Ca and transfers the signal downstream. Parathyroid hormone (PTH), Vitamin D, Fibroblast Growth Factor (FGF23) and other receptors or ion-transporters, work synergistically and establish a highly regulated signalling circuit between the bone, kidneys, and intestine to ensure the maintenance of Ca and P homeostasis. Any deviation from this well-orchestrated scheme may result in mild or severe pathologies expressed by biochemical and/or clinical features. Inherited disorders of Ca and P metabolism are rare. However, delayed diagnosis or misdiagnosis may cost patient's quality of life or even life expectancy. Unravelling the thread of the molecular pathways involving Ca and P signaling, we can better understand the link between genetic alterations and biochemical and/or clinical phenotypes and help in diagnosis and early therapeutic intervention.

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