The University of Osaka · Medicine
Professor Rena Okawa's research lab specializes in the genetic and clinical aspects of hypophosphatasia (HPP), a rare metabolic bone disorder caused by mutations in the ALPL gene. The lab focuses on understanding the dental and skeletal manifestations of HPP, particularly early primary tooth exfoliation and impaired mineralization, and evaluates the efficacy of enzyme replacement therapy (ERT) and emerging gene therapy approaches in improving bone and dental outcomes. The team integrates clinical dentistry with molecular genetics to advance early diagnosis and personalized treatment strategies for HPP patients.
Figures are computed from collected data and may differ slightly.
Hypophosphatasia is an inherited metabolic disorder characterized by defective mineralization of bones and teeth with a wide variety of manifestations, ranging from stillbirth to dental symptoms alone. Recently, the prognosis of severe hypophosphatasia patients has been greatly improved by the introduction of enzyme replacement therapy. The typical dental manifestation is early exfoliation of primary teeth due to disturbed cementum formation, so dentures are recommended to ensure that important
Hypophosphatasia (HPP) is a rare and intractable metabolic bone disease caused by mutations in the ALPL gene. Here, we undertook a nationwide survey of HPP in Japan, specifically regarding the prominent genetic and dental manifestations of odonto (n = 16 cases) and other (termed "non-odonto") (n = 36 cases) types. Mean serum alkaline phosphatase (ALP) values in odonto-type patients were significantly greater than those of non-odonto-type patients (P<0.05). Autosomal dominant and autosomal recess
Our results suggest that gene therapy can improve the general condition of Alpl<sup>-/-</sup> mice, and induce significant alveolar bone formation and moderate improvement of cementum formation, which may contribute to inhibition of early spontaneous tooth exfoliation.
Hypophosphatasia (HPP) is a skeletal disorder characterized by hypomineralization of bone, with early exfoliation of primary teeth. Alkaline phosphatase enzyme replacement therapy (ERT) has been shown to improve bone hypomineralization for patients with HPP, although its dental effects are unknown. A 20-month-old Japanese boy diagnosed with infantile HPP was referred to our clinic because of early exfoliation of primary teeth. The patient had been followed by a pediatrician since the age of 3 mo
Hypophosphatasia is a rare inherited skeletal disorder characterized by defective bone mineralization and tissue non-specific alkaline phosphatase (TNSALP) deficiency, with mutations in the gene encoding the TNSALP isozyme the cause. As for dental manifestations, premature loss of primary teeth due to disturbed cementum formation is well known and tooth roots in affected patients are not able to adequately attach to absorbed alveolar bone due to malformed cementum. We report spontaneous early ex
ERT resulted in improved tooth and mandibular bone mineralization, with notably good effects on teeth under formation. Acceleration of mineralization of roots associated with erupting teeth leads to stabilization of the periodontal condition. We concluded that ERT contributed to the improved dental condition seen in this patient.
Hypophosphatasia (HPP) is an inherited bone disease caused by mutation of the alkaline phosphatase, biomineralization associated (ALPL) gene and is characterized by bone hypomineralization and/or early exfoliation of primary teeth. Dental manifestations can lead to the diagnosis of milder types of HPP. The purpose of this paper is to report the case of two patients with growth and development problems who were referred to a dental clinic due to early exfoliation of primary teeth and were subsequ
X-linked hypophosphatemic rickets (XLH) is a disease characterized by impaired bone mineralization, and its dental features include gingival abscesses and large pulp spaces due to dentin dysplasia. A 20-year-old woman with XLH was referred to oral surgery for extraction of mandibular third molars. She was diagnosed with XLH at approximately 1 year of age and was treated thereafter. There was no history of gingival abscesses, and panoramic radiographic and computed tomographic examinations reveal
Hypophosphatasia (HPP) is a metabolic disease characterized by impaired bone mineralization and early exfoliation of primary teeth. This study was performed to develop a method for quantitatively evaluating alveolar bone hypomineralization using orthopantomographic images. Alveolar bone density was defined according to the pixel values and corrected by brightness shown by an indicator applied to the orthopantomographic device. Images of 200 healthy subjects (aged 2-15 years) were classified into
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