Obtel, Nicolas;
Le Cabec, Adeline;
Nguyen, The Nghia;
Giabicani, Eloise;
Van Malderen, Stijn JM;
Garrevoet, Jan;
Percot, Aline;
... Chaussain, Catherine; + view all
(2022)
Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.
Annals of the New York Academy of Sciences
10.1111/nyas.14865.
(In press).
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Dean_Annals NY Academy of Science - 2022 - Obtel - Impact of claudin‐10 deficiency on amelogenesis Lesson from a HELIX tooth.pdf Download (8MB) | Preview |
Abstract
In epithelia, claudin proteins are important components of the tight junctions as they determine the permeability and specificity to ions of the paracellular pathway. Mutations in CLDN10 cause the rare autosomal recessive HELIX syndrome (Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia), in which patients display severe enamel wear. Here, we assess whether this enamel wear is caused by an innate fragility directly related to claudin-10 deficiency in addition to xerostomia. A third molar collected from a female HELIX patient was analyzed by a combination of microanatomical and physicochemical approaches (i.e., electron microscopy, elemental mapping, Raman microspectroscopy, and synchrotron-based X-ray fluorescence). The enamel morphology, formation time, organization, and microstructure appeared to be within the natural variability. However, we identified accentuated strontium variations within the HELIX enamel, with alternating enrichments and depletions following the direction of the periodical striae of Retzius. These markings were also present in dentin. These data suggest that the enamel wear associated with HELIX may not be related to a disruption of enamel microstructure but rather to xerostomia. However, the occurrence of events of strontium variations within dental tissues might indicate repeated episodes of worsening of the renal dysfunction that may require further investigations.
| Type: | Article |
|---|---|
| Title: | Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/nyas.14865 |
| Publisher version: | https://doi.org/10.1111/nyas.14865 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, apatite, claudins, enamel, renal dysfunction, tight junctions, xerostomia, X-RAY-FLUORESCENCE, ENAMEL FORMATION, DENTAL DEVELOPMENT, CHRONOLOGICAL AGE, HUMAN TEETH, STRONTIUM, TRANSPORT, ION, AMELOBLASTS, RESOLUTION |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10156934 |
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