Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Prot-Bertoye, Caroline, Houillier, Pascal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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
_version_ 1783519070080991232
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