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Claudins in Renal Physiology and Pathology
Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So fa...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140793/ https://www.ncbi.nlm.nih.gov/pubmed/32164158 http://dx.doi.org/10.3390/genes11030290 |
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author | Prot-Bertoye, Caroline Houillier, Pascal |
author_facet | Prot-Bertoye, Caroline Houillier, Pascal |
author_sort | Prot-Bertoye, Caroline |
collection | PubMed |
description | Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described. |
format | Online Article Text |
id | pubmed-7140793 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-71407932020-04-10 Claudins in Renal Physiology and Pathology Prot-Bertoye, Caroline Houillier, Pascal Genes (Basel) Review Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described. MDPI 2020-03-10 /pmc/articles/PMC7140793/ /pubmed/32164158 http://dx.doi.org/10.3390/genes11030290 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Prot-Bertoye, Caroline Houillier, Pascal Claudins in Renal Physiology and Pathology |
title | Claudins in Renal Physiology and Pathology |
title_full | Claudins in Renal Physiology and Pathology |
title_fullStr | Claudins in Renal Physiology and Pathology |
title_full_unstemmed | Claudins in Renal Physiology and Pathology |
title_short | Claudins in Renal Physiology and Pathology |
title_sort | claudins in renal physiology and pathology |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140793/ https://www.ncbi.nlm.nih.gov/pubmed/32164158 http://dx.doi.org/10.3390/genes11030290 |
work_keys_str_mv | AT protbertoyecaroline claudinsinrenalphysiologyandpathology AT houillierpascal claudinsinrenalphysiologyandpathology |