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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제24권 제4호
- 발행연도
- 2019.1
- 수록면
- 213 - 219 (7page)
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초록· 키워드
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Skeletal mineralization is initiated in matrix vesicles (MVs), the small extracellular vesicles derived from osteoblasts and chondrocytes. Calcium and inorganic phosphate (Pi) taken up by MVs form hydroxyapatite crystals, which propagate on collagen fibrils to mineralize the extracellular matrix. Insufficient calcium or phosphate impairs skeletal mineralization. Because active vitamin D is necessary for intestinal calcium absorption, vitamin D deficiency is a significant cause of rickets/osteomalacia. Chronic hypophosphatemia also results in rickets/osteomalacia. Excessive action of fibroblast growth factor 23 (FGF23), a key regulator of Pi metabolism, leads to renal Pi wasting and impairs vitamin D activation. X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary FGF23-related hypophosphatemia, and enhanced FGF receptor (FGFR) signaling in osteocytes may be involved in the pathogenesis of this disease. Increased extracellular Pi triggers signal transduction via FGFR to regulate gene expression, implying a close relationship between Pi metabolism and FGFR. An anti-FGF23 antibody, burosumab, has recently been developed as a new treatment for XLH. In addition to various forms of rickets/osteomalacia, hypophosphatasia (HPP) is characterized by impaired skeletal mineralization. HPP is caused by inactivating mutations in tissue-nonspecific alkaline phosphatase, an enzyme rich in MVs. The recent development of enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has improved the prognosis, motor function, and quality of life in patients with HPP. This links impaired skeletal mineralization with various conditions, and unraveling its pathogenesis will lead to more precise diagnoses and effective treatments.
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참고문헌 (63)
참고문헌 신청
Young MF / 2016 / Skeletal biology: where matrix meets mineral / Matrix Biol 52-54:1~6
Fukumoto S / 2015 / Pathogenesis and diagnostic criteria for rickets and osteomalacia--proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society / J Bone Miner Metab 33:467~473
Millán JL / 2015 / What can we learn about the neural functions of TNAP from studies on other organs and tissues? / Subcell Biochem 76:155~166
Whyte MP / 2016 / Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment / Nat Rev Endocrinol 12:233~246
Millán JL / 2013 / The role of phosphatases in the initiation of skeletal mineralization / Calcif Tissue Int 93:299~306
Fukumoto S / 2015 / Pathogenesis and diagnostic criteria for rickets and osteomalacia--proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society / J Bone Miner Metab 33:467~473
Millán JL / 2015 / What can we learn about the neural functions of TNAP from studies on other organs and tissues? / Subcell Biochem 76:155~166
Whyte MP / 2016 / Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment / Nat Rev Endocrinol 12:233~246
Millán JL / 2013 / The role of phosphatases in the initiation of skeletal mineralization / Calcif Tissue Int 93:299~306
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