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01-01-2019 | Original Article

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation

Authors: Thantrira Porntaveetus, Nunthawan Nowwarote, Thanaphum Osathanon, Thanakorn Theerapanon, Prasit Pavasant, Lawan Boonprakong, Kittisak Sanon, Sirivimol Srisawasdi, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Published in: Clinical Oral Investigations | Issue 1/2019

Abstract

Objectives

Dentin sialophosphoprotein (DSPP) plays an important role in the mineralization of both dentin and bones. The Dspp null mice developed periodontal diseases. Patients with DSPP mutations have dentinogenesis imperfecta (DGI), but very little is known about their bone characteristics. This study aims to characterize alveolar bone cells of a DGI patient with DSPP mutation.

Materials and methods

Pathogenic variants were identified by whole exome and sanger sequencing. Cells isolated from the alveolar bones of a DSPP patient were investigated for their characteristics including cell morphology, attachment, spreading, proliferation, colony formation, mineralization, and osteogenic differentiation.

Results

We identified a Thai family with three members affected with autosomal dominant DGI harboring a heterozygous pathogenic missense mutation, c.50C > T, p.P17L, in exon 2 of the DSPP gene. The patients’ phenotypes presented deteriorated opalescent teeth with periapical lesions, thickening of lamina dura, furcation involvement, alveolar bone loss, and bone exostoses. The alveolar bone cells isolated from DSPP patient exhibited compromised proliferation and colony formation. Scanning electron microscope revealed altered cellular morphology and spreading. The DSPP cells showed deviated mRNA levels of OCN, ALP, and COL1 but maintained in vitro mineralization ability compared to the control.

Conclusions

We demonstrate that the DSPP p.P17L mutant alveolar bone cells had compromised cell spreading, proliferation, colony formation, and osteogenic induction, suggesting abnormal bone characteristics in the patient with DGI caused by DSPP mutation.

Clinical relevance

DSPP mutation can induce the behavior alterations of alveolar bone cells.

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Title: Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation
Authors: Thantrira Porntaveetus
Nunthawan Nowwarote
Thanaphum Osathanon
Thanakorn Theerapanon
Prasit Pavasant
Lawan Boonprakong
Kittisak Sanon
Sirivimol Srisawasdi
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Publication date: 01-01-2019
Publisher: Springer Berlin Heidelberg
Published in: Clinical Oral Investigations / Issue 1/2019
Print ISSN: 1432-6981
Electronic ISSN: 1436-3771
DOI: https://doi.org/10.1007/s00784-018-2437-7

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Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation

Abstract

Objectives

Materials and methods

Results

Conclusions

Clinical relevance

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Objectives

Materials and methods

Results

Conclusions

Clinical relevance

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