Genetic causes of proteinuria and nephrotic syndrome

Impact on podocyte pathobiology

Oleh Akchurin, Kimberly J. Reidy

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)221-233
Number of pages13
JournalPediatric Nephrology
Volume30
Issue number2
DOIs
StatePublished - Mar 2 2014

Fingerprint

Podocytes
Nephrotic Syndrome
Proteinuria
Focal Segmental Glomerulosclerosis
Mutation
Cell Polarity
Genetically Modified Animals
Endoplasmic Reticulum Stress
Calcium Signaling
Autophagy
Wounds and Injuries
Actin Cytoskeleton
Health

Keywords

  • Focal segmental glomerulosclerosis
  • Genetic mutation
  • Nephrotic syndrome
  • Podocyte signaling
  • Steroid resistant nephrotic syndrome

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Genetic causes of proteinuria and nephrotic syndrome : Impact on podocyte pathobiology. / Akchurin, Oleh; Reidy, Kimberly J.

In: Pediatric Nephrology, Vol. 30, No. 2, 02.03.2014, p. 221-233.

Research output: Contribution to journalArticle

@article{68d5b595c67742829a6747415b52d9e3,
title = "Genetic causes of proteinuria and nephrotic syndrome: Impact on podocyte pathobiology",
abstract = "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.",
keywords = "Focal segmental glomerulosclerosis, Genetic mutation, Nephrotic syndrome, Podocyte signaling, Steroid resistant nephrotic syndrome",
author = "Oleh Akchurin and Reidy, {Kimberly J.}",
year = "2014",
month = "3",
day = "2",
doi = "10.1007/s00467-014-2753-3",
language = "English (US)",
volume = "30",
pages = "221--233",
journal = "Pediatric Nephrology",
issn = "0931-041X",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Genetic causes of proteinuria and nephrotic syndrome

T2 - Impact on podocyte pathobiology

AU - Akchurin, Oleh

AU - Reidy, Kimberly J.

PY - 2014/3/2

Y1 - 2014/3/2

N2 - 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.

AB - 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.

KW - Focal segmental glomerulosclerosis

KW - Genetic mutation

KW - Nephrotic syndrome

KW - Podocyte signaling

KW - Steroid resistant nephrotic syndrome

UR - http://www.scopus.com/inward/record.url?scp=84926666849&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84926666849&partnerID=8YFLogxK

U2 - 10.1007/s00467-014-2753-3

DO - 10.1007/s00467-014-2753-3

M3 - Article

VL - 30

SP - 221

EP - 233

JO - Pediatric Nephrology

JF - Pediatric Nephrology

SN - 0931-041X

IS - 2

ER -