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https://doi.org/10.14670/HH-18-131
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Título: | HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes |
Fecha de publicación: | 2019 |
Editorial: | Universidad de Murcia, Departamento de Biologia Celular e Histiologia |
Cita bibliográfica: | Histology and Histopathology Vol. 34, nº 12 (2019) |
ISSN: | 0213-3911 1699-5848 |
Materias relacionadas: | CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología |
Palabras clave: | Heparan sulfate Lysosome HGSNAT Renal corpuscle Podocyte |
Resumen: | ucopolysaccharidosis III type C is a lysosomal storage disorder caused by the accumulation of heparan sulfate in lysosomes. The disorder occurs due to Heparan Acetyl-CoA: α-glucosaminide N- acetyltransferase (HGSNAT) deficiency, an enzyme which typically catalyzes the transmembrane acetylation of heparan sulfate, a basement membrane component. When the gene encoding this enzyme is mutated, it cannot perform the processing of heparan sulfate, leading to un-acetylated heparan sulfate build-up in the lysosomes of cells, causing a storage disorder. This defect has been studied primarily in brain and liver cells, but its effect on the structural integrity of the glomerulus is poorly known. The present study focuses on the effect of Hgsnat gene inactivation and heparan sulfate toxicity on the integrity of the renal corpuscle. This cortical structure was chosen because of its abundance of basement membranes and heparan sulfate as well as the renal corpuscle’s physiological importance in glomerular filtration. Light microscopy, electron microscopy, and immunocytochemistry of genetically modified mice revealed a buildup of lysosomes in the podocytes, suggesting that these cells are responsible for the processing of glomerular basement membranes |
Autor/es principal/es: | Nagel, Lauren Oliveira, Regiana Pshezhetsky, Alexey V. Morales, Carlos R. |
URI: | http://hdl.handle.net/10201/124951 |
DOI: | https://doi.org/10.14670/HH-18-131 |
Tipo de documento: | info:eu-repo/semantics/article |
Número páginas / Extensión: | 9 |
Derechos: | info:eu-repo/semantics/openAccess Attribution-NonCommercial-NoDerivatives 4.0 Internacional |
Aparece en las colecciones: | Vol.34,nº12 (2019) |
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Nagel-34-1377-1385-2019.pdf | 12,46 MB | Adobe PDF | Visualizar/Abrir |
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