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How are podocytes affected in nail–patella syndrome?

Nail–patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients with the syndrome. Prognosis is determined by the nephropathy that develops in many such patients. Besides podocyte foot-process effa...

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Autor principal: Witzgall, Ralph
Formato: Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413093/
https://www.ncbi.nlm.nih.gov/pubmed/18253764
http://dx.doi.org/10.1007/s00467-007-0714-9
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author Witzgall, Ralph
author_facet Witzgall, Ralph
author_sort Witzgall, Ralph
collection PubMed
description Nail–patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients with the syndrome. Prognosis is determined by the nephropathy that develops in many such patients. Besides podocyte foot-process effacement, pathognomonic changes in the kidney comprise electron-lucent areas and fibrillar inclusions in the glomerular basement membrane. These characteristic symptoms are caused by mutations in the gene encoding the transcription factor LMX1B, a member of the LIM-homeodomain gene family. Comparable with the human syndrome, homozygous Lmx1b knockout mice lack patellae and suffer from severe podocyte damage. In contrast, however, podocin and the α3 and α4 chains of collagen IV are absent in the glomeruli of Lmx1b knockout mice. Further studies with podocyte-specific Lmx1b knockout mice have confirmed the importance of LMX1B in podocytes, as these mice apparently develop foot processes initially but lose them later on. We therefore conclude that LMX1B is essential for the development of metanephric precursor cells into podocytes and possibly also for maintaining the differentiation status of podocytes. LMX1B can serve as a model system to elucidate a genetic program in podocytes.
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spelling pubmed-24130932008-06-05 How are podocytes affected in nail–patella syndrome? Witzgall, Ralph Pediatr Nephrol Editorial Commentary Nail–patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients with the syndrome. Prognosis is determined by the nephropathy that develops in many such patients. Besides podocyte foot-process effacement, pathognomonic changes in the kidney comprise electron-lucent areas and fibrillar inclusions in the glomerular basement membrane. These characteristic symptoms are caused by mutations in the gene encoding the transcription factor LMX1B, a member of the LIM-homeodomain gene family. Comparable with the human syndrome, homozygous Lmx1b knockout mice lack patellae and suffer from severe podocyte damage. In contrast, however, podocin and the α3 and α4 chains of collagen IV are absent in the glomeruli of Lmx1b knockout mice. Further studies with podocyte-specific Lmx1b knockout mice have confirmed the importance of LMX1B in podocytes, as these mice apparently develop foot processes initially but lose them later on. We therefore conclude that LMX1B is essential for the development of metanephric precursor cells into podocytes and possibly also for maintaining the differentiation status of podocytes. LMX1B can serve as a model system to elucidate a genetic program in podocytes. Springer Berlin Heidelberg 2008-07-01 2008 /pmc/articles/PMC2413093/ /pubmed/18253764 http://dx.doi.org/10.1007/s00467-007-0714-9 Text en © IPNA 2007 This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Editorial Commentary
Witzgall, Ralph
How are podocytes affected in nail–patella syndrome?
title How are podocytes affected in nail–patella syndrome?
title_full How are podocytes affected in nail–patella syndrome?
title_fullStr How are podocytes affected in nail–patella syndrome?
title_full_unstemmed How are podocytes affected in nail–patella syndrome?
title_short How are podocytes affected in nail–patella syndrome?
title_sort how are podocytes affected in nail–patella syndrome?
topic Editorial Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413093/
https://www.ncbi.nlm.nih.gov/pubmed/18253764
http://dx.doi.org/10.1007/s00467-007-0714-9
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