ESPEYB20 3. Bone, Growth Plate and Mineral Metabolism Advances in Clinical Practice (8 abstracts)
3.4. Skeletal and extraskeletal disorders of biomineralization
Collins MT , Marcucci G , Anders HJ , Beltrami G , Cauley JA , Ebeling PR , Kumar R , Linglart A , Sangiorgi L , Towler DA , Weston R , Whyte MP , Brandi ML , Clarke B & Thakker RV
Nat Rev Endocrinol. 2022 Aug;18(8):473–489. doi: 10.1038/s41574-022-00682-7. PMID: 35578027. https://www.nature.com/articles/s41574-022-00682-7
In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.
Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biomineralization. The review explains the principal regulators of mineralization and crystallization, including the generation of pyrophosphate and matrix vesicles, which are crucial for forming hydroxyapatite, the primary building block of all mineralized tissues. Tissue-level pyrophosphate degradation by tissue non-specific alkaline phosphatase, expressed by ossifying tissues, permits hydroxyapatite formation and subsequent calcification.
Fibroblast growth factor 23 (FGF23) is another important player with a crucial role in the regulation of phosphate and 1,25 dihydroxy vitamin D with deficiency causing rickets or osteomalacia and excess resulting in ectopic calcification. Additionally, exposure to excessive fluoride can substitute the hydroxyl group of hydroxyapatite, leading to altered tooth enamel and skeletal complications, such as osteomalacia and fractures (fluorosis). This review also sheds light on non-hydroxyapatite crystal formation (crystallopathies) often promoted by adhesive proteins or neutrophil extracellular traps, especially in excretory organs, which can stimulate inflammation-related pathogenic responses.
Disorders of biomineralization cause alterations in mineral quantity and quality, as well as extraskeletal mineralization, such as hyperphosphataemic familial tumoural calcinosis. Disorders of alkaline phosphatase (hypophosphatasia) and phosphate homeostasis are highlighted, including X-linked hypophosphataemic rickets, fluorosis, rickets, and osteomalacia. There is also a discussion on arterial and renal calcification, emphasizing that dysregulation of the hormonally controlled critical process of urinary calcium and phosphate reabsorption in the kidney can lead to pathological calcification (nephrocalcinosis and nephrolithiasis). The newly attained understanding summarized in this review is the basis for future studies that promise new therapeutic approaches for biomineralization disorders.
Volume 20
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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