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  • Title: Molecular and cellular basis of hypophosphatasia.
    Author: Komaru K, Ishida-Okumura Y, Numa-Kinjoh N, Hasegawa T, Oda K.
    Journal: J Oral Biosci; 2019 Sep; 61(3):141-148. PubMed ID: 31400546.
    Abstract:
    BACKGROUND: Hypophosphatasia (HPP) is an inherited disorder characterized by defective mineralization of the bone and teeth that is also associated with a deficiency of serum alkaline phosphatase (ALP). Patients with HPP exhibit a broad range of symptoms including stillbirth with an unmineralized skeleton, premature exfoliation and dental caries in childhood, and pseudo-fractures in adulthood. The broad clinical spectrum of HPP is attributed to various mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). Nevertheless, the molecular mechanisms underlying the genotypic and phenotypic relationship of HPP remain unclear. HIGHLIGHT: The expression of HPP-related TNSALP mutants in mammalian cells allows us to determine for the effects of mutations on the properties of TNSALP, which could contribute to a better understanding of the relationship between structure and function of TNSALP. CONCLUSION: Molecular characterization of TNSALP mutants helps establish the etiology and onset of HPP.
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