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Hereditary dentine diseases resulting from mutations in DSPP gene.
J Dent. 2012 Jul; 40(7):542-8.JD

Abstract

OBJECTIVES

This review groups the newest results of molecular analyses of DSPP gene for patients diagnosed either with dentinogenesis imperfecta type II/III or dentine dysplasia and tries to link the phenotypes with specific mutations in the DSPP gene.

DATA

The review includes biochemical data introducing a specificity of DSPP protein which justifies it as a critical factor for dentine mineralization and maturation. The majority of the review analyzes mutations in the DSPP gene which result in phenotypes of dentinogenesis imperfecta types II or/and III or dentine dysplasia.

SOURCES

An electronic search was conducted in the databases of Pub Med and supplemented by manual study of relevant references.

STUDY SELECTION

52 out of 108 references were finally selected for the review based on the novelty and/or originality of data.

CONCLUSION

Hereditary dentine disorders dentinogenesis imperfecta type II/III and dentine dysplasia are currently proposed to be one disease with distinct clinical manifestations reflecting various mutations in the same DSPP gene. For years both disorders were linked exclusively to mutations in the DSP code but a growing number of papers describe mutations which manifest a similar phenotype but are localized in the strongly repetitive sequence of the 3' terminus of the DSPP which codes DPP protein. Our search suggests that the localization of mutation in the sequence of the DSPP gene might result in a different phenotype due to the diverse cellular fate of the mutated protein. Thus comprehensive research on the cellular fate and processing of both normal and mutated DSPP is still required.

Authors+Show Affiliations

Department of Dental Prosthodontics, Medical University of Gdansk, 18 E Orzeszkowej St, 80-208 Gdansk, Poland. izabelam@gumed.edu.plNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

22521702

Citation

Maciejewska, Izabela, and Ewa Chomik. "Hereditary Dentine Diseases Resulting From Mutations in DSPP Gene." Journal of Dentistry, vol. 40, no. 7, 2012, pp. 542-8.
Maciejewska I, Chomik E. Hereditary dentine diseases resulting from mutations in DSPP gene. J Dent. 2012;40(7):542-8.
Maciejewska, I., & Chomik, E. (2012). Hereditary dentine diseases resulting from mutations in DSPP gene. Journal of Dentistry, 40(7), 542-8. https://doi.org/10.1016/j.jdent.2012.04.004
Maciejewska I, Chomik E. Hereditary Dentine Diseases Resulting From Mutations in DSPP Gene. J Dent. 2012;40(7):542-8. PubMed PMID: 22521702.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary dentine diseases resulting from mutations in DSPP gene. AU - Maciejewska,Izabela, AU - Chomik,Ewa, Y1 - 2012/04/19/ PY - 2011/09/06/received PY - 2012/04/04/revised PY - 2012/04/05/accepted PY - 2012/4/24/entrez PY - 2012/4/24/pubmed PY - 2012/12/10/medline SP - 542 EP - 8 JF - Journal of dentistry JO - J Dent VL - 40 IS - 7 N2 - OBJECTIVES: This review groups the newest results of molecular analyses of DSPP gene for patients diagnosed either with dentinogenesis imperfecta type II/III or dentine dysplasia and tries to link the phenotypes with specific mutations in the DSPP gene. DATA: The review includes biochemical data introducing a specificity of DSPP protein which justifies it as a critical factor for dentine mineralization and maturation. The majority of the review analyzes mutations in the DSPP gene which result in phenotypes of dentinogenesis imperfecta types II or/and III or dentine dysplasia. SOURCES: An electronic search was conducted in the databases of Pub Med and supplemented by manual study of relevant references. STUDY SELECTION: 52 out of 108 references were finally selected for the review based on the novelty and/or originality of data. CONCLUSION: Hereditary dentine disorders dentinogenesis imperfecta type II/III and dentine dysplasia are currently proposed to be one disease with distinct clinical manifestations reflecting various mutations in the same DSPP gene. For years both disorders were linked exclusively to mutations in the DSP code but a growing number of papers describe mutations which manifest a similar phenotype but are localized in the strongly repetitive sequence of the 3' terminus of the DSPP which codes DPP protein. Our search suggests that the localization of mutation in the sequence of the DSPP gene might result in a different phenotype due to the diverse cellular fate of the mutated protein. Thus comprehensive research on the cellular fate and processing of both normal and mutated DSPP is still required. SN - 1879-176X UR - https://www.unboundmedicine.com/medline/citation/22521702/Hereditary_dentine_diseases_resulting_from_mutations_in_DSPP_gene_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0300-5712(12)00087-5 DB - PRIME DP - Unbound Medicine ER -