Skeletal and extraskeletal disorders of biomineralization

Michael T. Collins, Gemma Marcucci, Hans Joachim Anders, Giovanni Beltrami, Jane A. Cauley, Peter R. Ebeling, Rajiv Kumar, Agnès Linglart, Luca Sangiorgi, Dwight A. Towler, Ria Weston, Michael P. Whyte, Maria Luisa Brandi, Bart Clarke, Rajesh V. Thakker

Research output: Contribution to journalReview ArticleResearchpeer-review

26 Citations (Scopus)


The physiological process of biomineralization is complex and deviation from it leads to a variety of diseases. Progress in the past 10 years has enhanced understanding of the genetic, molecular and cellular pathophysiology underlying these disorders; sometimes, this knowledge has both facilitated restoration of health and clarified the very nature of biomineralization as it occurs in humans. In this Review, we consider the principal regulators of mineralization and crystallization, and how dysregulation of these processes can lead to human disease. The knowledge acquired to date and gaps still to be filled are highlighted. The disorders of mineralization discussed comprise a broad spectrum of conditions that encompass bone disorders associated with alterations of mineral quantity and quality, as well as disorders of extraskeletal mineralization (hyperphosphataemic familial tumoural calcinosis). Included are disorders of alkaline phosphatase (hypophosphatasia) and phosphate homeostasis (X-linked hypophosphataemic rickets, fluorosis, rickets and osteomalacia). Furthermore, crystallopathies are covered as well as arterial and renal calcification. This Review discusses the current knowledge of biomineralization derived from basic and clinical research and points to future studies that will lead to new therapeutic approaches for biomineralization disorders.

Original languageEnglish
Pages (from-to)473-489
Number of pages17
JournalNature Reviews Endocrinology
Issue number8
Publication statusPublished - Aug 2022

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