RGD Reference Report - Determinants of vascular permeability in the kidney glomerulus. - Rat Genome Database

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Determinants of vascular permeability in the kidney glomerulus.

Authors: Hamano, Y  Grunkemeyer, JA  Sudhakar, A  Zeisberg, M  Cosgrove, D  Morello, R  Lee, B  Sugimoto, H  Kalluri, R 
Citation: Hamano Y, etal., J Biol Chem 2002 Aug 23;277(34):31154-62. Epub 2002 May 30.
RGD ID: 737765
Pubmed: PMID:12039968   (View Abstract at PubMed)
DOI: DOI:10.1074/jbc.M204806200   (Journal Full-text)

The human kidneys filter 70 liters of blood plasma every day. The hallmark of almost all kidney diseases, whether acquired or genetic, is the leakage of plasma proteins into the urine because of alterations in the glomerular filtration unit of the kidney. In this regard, the human mutations in nephrin, podocin, alpha-actinin-4, COL4A3, and COL4A5 genes expressed in the glomeruli have been implicated to cause alterations in glomerular filtration apparatus. Nevertheless, the expression of these proteins in relation to each other in mouse models for glomerular vascular leak is unknown. Additionally, within the glomerulus, the central question of whether the primary filtration barrier is the basement membrane or the epithelial slit diaphragm remains ambiguous. Therefore, in this study, we examined the localization and expression of glomerular epithelial slit diaphragm and glomerular basement membrane proteins implicated in glomerular vascular leak using mice deficient in either the alpha3 chain of type IV collagen, the major constituent of glomerular basement membrane, or LMX1B transcription factor, which regulates the expression of key glomerular type IV collagen genes COL4A3 and COL4A4 or nephrin, a glomerular epithelial slit diaphragm-associated protein. This study demonstrates that decreased expression of slit diaphragm protein, nephrin, correlates with a loss of glomerular filter integrity. Additionally, we demonstrate that defects induced by proteins of glomerular basement membrane lead to an insidious plasma protein leak, whereas the defects induced by proteins in the glomerular epithelial slit diaphragms lead to a precipitous plasma protein leak.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
proteinuria  ISONphs1 (Mus musculus)737765; 737765 RGD 
proteinuria  IMP 737765 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nphs1  (NPHS1 adhesion molecule, nephrin)

Genes (Mus musculus)
Nphs1  (nephrosis 1, nephrin)

Genes (Homo sapiens)
NPHS1  (NPHS1 adhesion molecule, nephrin)

Objects referenced in this article
Gene Col4a3 collagen, type IV, alpha 3 Mus musculus
Gene Lmx1b LIM homeobox transcription factor 1 beta Mus musculus

Additional Information