Genetic causes of proteinuria and nephrotic syndrome: Impact on podocyte pathobiology

被引：0
作者：
Oleh Akchurin
Kimberly J. Reidy
机构：
[1] Children’s Hospital at Montefiore/Albert Einstein College of Medicine,Department of Pediatrics/Nephrology
来源：
Pediatric Nephrology | 2015年 / 30卷
关键词：
Focal segmental glomerulosclerosis; Nephrotic syndrome; Steroid resistant nephrotic syndrome; Genetic mutation; Podocyte signaling;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
In the past 20 years, multiple genetic mutations have been identified in patients with congenital nephrotic syndrome (CNS) and both familial and sporadic focal segmental glomerulosclerosis (FSGS). Characterization of the genetic basis of CNS and FSGS has led to the recognition of the importance of podocyte injury to the development of glomerulosclerosis. Genetic mutations induce injury due to effects on the podocyte’s structure, actin cytoskeleton, calcium signaling, and lysosomal and mitochondrial function. Transgenic animal studies have contributed to our understanding of podocyte pathobiology. Podocyte endoplasmic reticulum stress response, cell polarity, and autophagy play a role in maintenance of podocyte health. Further investigations related to the effects of genetic mutations on podocytes may identify new pathways for targeting therapeutics for nephrotic syndrome.
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页码：221 / 233
页数：12
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共 1483 条
[61]  
Lenkkeri U(2006)INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization J Biol Chem 281 26754-2388
[62]  
Mannikko M(2012)Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis Kidney Int 81 94-3253
[63]  
Lamerdin J(2012)Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis Kidney Int 83 316-1804
[64]  
McCready P(2011)INF2 mutations in Charcot–Marie–Tooth disease with glomerulopathy New Engl J Med 365 2377-1634
[65]  
Putaala H(2013)ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling J Clin Invest 123 3243-744
[66]  
Ruotsalainen V(2005)A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis Science 308 1801-C289
[67]  
Morita T(2011)TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype Clin J Am Soc Nephrol 6 1626-193
[68]  
Nissinen M(2005)TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function Nat Genet 37 739-1405
[69]  
Herva R(2010)Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease PLoS One 5 e12859-280
[70]  
Kashtan CE(2013)Opposing effects of podocin on the gating of podocyte TRPC6 channels evoked by membrane stretch or diacylglycerol Am J Physiol Cell Physiol 305 C276-754
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