Journal of Postgraduate Medicine
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 REVIEW ARTICLE
Year : 2011  |  Volume : 57  |  Issue : 4  |  Page : 314-320

Foothold of NPHS2 mutations in primary nephrotic syndrome


1 Departments of Genetics and Biotechnology, Osmania University, Hyderabad, Andhra Pradesh, India
2 Department of Nephrology, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India

Correspondence Address:
P Jahan
Departments of Genetics and Biotechnology, Osmania University, Hyderabad, Andhra Pradesh
India
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Source of Support: ICMR [IRIS ID 2009-04120], Conflict of Interest: None


DOI: 10.4103/0022-3859.90083

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Glomerular podocytes are highly specialized cells with a complex cytoarchitecture. Their most prominent features are interdigitated foot processes with filtration slits in between. These are bridged by the slit diaphragm, which plays a major role in establishing the selective permeability of the glomerular filtration barrier. We searched Medline and Pubmed using the combination of keywords "NPHS2", "podocin", "steroid-resistant nephrotic syndrome," and "genetics" to identify studies describing an association between NPHS2 gene and renal disease. The highly dynamic foot processes contain an actin-based contractile apparatus comparable to that of smooth muscle cells. Mutations affecting several podocyte proteins lead to rearrangement of the cytoskeleton, disruption of the filtration barrier, and subsequent renal disease. The fact that the dynamic regulation of the podocyte cytoskeleton is vital to kidney function has led to podocytes emerging as an excellent model system for studying actin cytoskeleton dynamics in a physiological context. Injury to podocytes leads to proteinuria, a hallmark of most glomerular diseases. Recent studies have led to a considerable increase in our understanding of podocyte biology including composition and arrangement of the cytoskeleton involved in the control of ultrafiltration. Moreover, disturbances of podocyte architecture resulting in the retraction of foot processes and proteinuria appear to be a common theme in the progression of an acquired glomerular disease. In hereditary nephrotic syndromes identified over the last few years, all mutated gene products were localized in podocytes. This review integrates our recent physiological and molecular understanding of the role of podocytes during the maintenance and failure of the glomerular filtration barrier.






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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow