Τίτλος:
The molecular basis of calcium and phosphorus inherited metabolic disorders
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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 homeosta-sis. 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. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
Συγγραφείς:
Papadopoulou, A.
Bountouvi, E.
Karachaliou, F.-E.
Περιοδικό:
Gene and Gene Editing
Λέξεις-κλειδιά:
calcium; calcium sensing receptor; fibroblast growth factor 23; fibroblast growth factor receptor; fibroblast growth factor receptor 1; Klotho protein; oxygenase; parathyroid hormone; phosphorus; vitamin D; vitamin D receptor; calcium; phosphorus, autosomal dominant disorder; autosomal dominant hypophosphatemic rickets; autosomal recessive hypophosphatemic rickets; biochemical analysis; biological activity; calcium homeostasis; calcium metabolism; calcium signaling; chondrodysplasia; clinical feature; delayed diagnosis; diagnostic error; disease association; disease severity; early intervention; enzyme deficiency; extracellular calcium; familial disease; familial hypocalciuric hypercalcemia; FGFR1 gene; gene mutation; genetic disorder; hereditary hypophosphatemic rickets with hypercalciuria; homeostasis; human; hypercalcemia; hypocalcemia; hypocalciuria; jansen metaphyseal chondrodysplasia; KL gene; life expectancy; metabolic disorder; metaphysis; molecular diagnosis; molecular genetics; nonhuman; normal value; osteoporosis; phenotype; phosphate metabolism; phosphorus homeostasis; protein function; protein localization; pseudohypoparathyroidism; quality of life; rare disease; Review; rickets; signal transduction; vitamin D dependent rickets type 2A; vitamin D metabolism; X chromosome linked disorder; animal; disorders of mineral, electrolyte and metal metabolism; electrolyte disturbance; genetics; metabolism; mutation; pathology, Animals; Calcium; Calcium Metabolism Disorders; Humans; Mutation; Phosphorus; Phosphorus Metabolism Disorders
DOI:
10.3390/genes12050734
