The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation
In a group of families in northern Sweden, a mutation in the ENAM gene (predicted to produce a highly truncated protein) results in the local hypoplastic form of autosomal dominant amelogenesis imperfecta. In this study, sections of deciduous teeth from members of 3 of these families were examined b...
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Online Access: | http://dx.doi.org/10.1159/000258703 https://www.karger.com/Article/Pdf/258703 |
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crskarger:10.1159/000258703 2024-09-30T14:40:19+00:00 The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation Shore, R.C. Bäckman, B. Elcock, C. Brook, A.H. Brookes, S.J. Kirkham, J. 2009 http://dx.doi.org/10.1159/000258703 https://www.karger.com/Article/Pdf/258703 en eng S. Karger AG https://www.karger.com/Services/SiteLicenses https://www.karger.com/Services/SiteLicenses Cells Tissues Organs volume 191, issue 4, page 301-306 ISSN 1422-6405 1422-6421 journal-article 2009 crskarger https://doi.org/10.1159/000258703 2024-09-18T04:06:42Z In a group of families in northern Sweden, a mutation in the ENAM gene (predicted to produce a highly truncated protein) results in the local hypoplastic form of autosomal dominant amelogenesis imperfecta. In this study, sections of deciduous teeth from members of 3 of these families were examined by scanning electron microscopy (SEM) and the enamel mineral was analysed by energy dispersive X-ray spectroscopy (EDX). The sections were also probed with antibodies raised to a conserved sequence of the enamelin protein. Selected intact teeth were first analysed by digital imaging and ascribed with an ‘Enamel Defects Index’ (EDI) score. SEM of tooth sections revealed disrupted prism morphology and the prisms had a glass-like appearance in some areas. These areas of dysplasia were sometimes irregular but formed regular arrays in others. Comparison of EDI scores with SEM indicated that in one tooth the surface had no measurable defects but significant defects were present in the underlying enamel microstructure. SEM immunohistochemistry with the antibody raised to a fragment of the enamelin protein produced positive, but light, labelling throughout normal enamel. In dysplastic areas, however, the labelling intensity appeared to be reduced. The results indicate that the presence of functional enamelin in the correct amounts is necessary for correct prism morphogenesis. In addition, a combination of EDI and structural analysis indicate that defects in enamel microstructure are not necessarily visible as defects on the surface of the tooth, suggesting the possibility, at least, that some instances of under-diagnosis may occur. Article in Journal/Newspaper Northern Sweden Karger Tooth The ENVELOPE(168.983,168.983,-77.517,-77.517) Cells Tissues Organs 191 4 301 306 |
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English |
description |
In a group of families in northern Sweden, a mutation in the ENAM gene (predicted to produce a highly truncated protein) results in the local hypoplastic form of autosomal dominant amelogenesis imperfecta. In this study, sections of deciduous teeth from members of 3 of these families were examined by scanning electron microscopy (SEM) and the enamel mineral was analysed by energy dispersive X-ray spectroscopy (EDX). The sections were also probed with antibodies raised to a conserved sequence of the enamelin protein. Selected intact teeth were first analysed by digital imaging and ascribed with an ‘Enamel Defects Index’ (EDI) score. SEM of tooth sections revealed disrupted prism morphology and the prisms had a glass-like appearance in some areas. These areas of dysplasia were sometimes irregular but formed regular arrays in others. Comparison of EDI scores with SEM indicated that in one tooth the surface had no measurable defects but significant defects were present in the underlying enamel microstructure. SEM immunohistochemistry with the antibody raised to a fragment of the enamelin protein produced positive, but light, labelling throughout normal enamel. In dysplastic areas, however, the labelling intensity appeared to be reduced. The results indicate that the presence of functional enamelin in the correct amounts is necessary for correct prism morphogenesis. In addition, a combination of EDI and structural analysis indicate that defects in enamel microstructure are not necessarily visible as defects on the surface of the tooth, suggesting the possibility, at least, that some instances of under-diagnosis may occur. |
format |
Article in Journal/Newspaper |
author |
Shore, R.C. Bäckman, B. Elcock, C. Brook, A.H. Brookes, S.J. Kirkham, J. |
spellingShingle |
Shore, R.C. Bäckman, B. Elcock, C. Brook, A.H. Brookes, S.J. Kirkham, J. The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation |
author_facet |
Shore, R.C. Bäckman, B. Elcock, C. Brook, A.H. Brookes, S.J. Kirkham, J. |
author_sort |
Shore, R.C. |
title |
The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation |
title_short |
The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation |
title_full |
The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation |
title_fullStr |
The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation |
title_full_unstemmed |
The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation |
title_sort |
structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an enam mutation |
publisher |
S. Karger AG |
publishDate |
2009 |
url |
http://dx.doi.org/10.1159/000258703 https://www.karger.com/Article/Pdf/258703 |
long_lat |
ENVELOPE(168.983,168.983,-77.517,-77.517) |
geographic |
Tooth The |
geographic_facet |
Tooth The |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_source |
Cells Tissues Organs volume 191, issue 4, page 301-306 ISSN 1422-6405 1422-6421 |
op_rights |
https://www.karger.com/Services/SiteLicenses https://www.karger.com/Services/SiteLicenses |
op_doi |
https://doi.org/10.1159/000258703 |
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Cells Tissues Organs |
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191 |
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4 |
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301 |
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