Renal slit diaphragm--the open zipper and the failing heart.
Inherited forms of proteinuria constitute a rare and heterogeneous group of diseases, the most prominent of which is glomerular dysfunction, which leads to proteinuria. Investigation of the genetic background underlying these diseases has provided significant data on the normal operation of the glomerular filter. Among the different components of the glomerulus, the podocyte slit diaphragm is considered the main source for genetically derived protein alteration, which leads in turn to proteinuria. Investigation of the different proteins revealed that the lack of nephrin and podocin is the leading cause of several inherited forms of proteinuria. It was also proposed that the lack of podocin is linked to cardiac anomalies. This review suggests that the absence of slit diaphragm proteins and the open zipper phenomenon are associated with cardiac anomalies.
Blum
Shany
S
Laboratory of Vascular Medicine, Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel. shanyb@techunix.technion.ac.il
Nakhoul
Farid
F
Khankin
Eliyahu
E
Abassi
Zaid
Z
D006333:Heart Failure / Q000503:physiopathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000502:physiology*; D008565:Membrane Proteins / Q000502:physiology*; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D050199:Podocytes; D011507:Proteinuria / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; C113267:nephrin