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[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].

Authors
  • Gubler, Marie-Claire
  • Gribouval, Olivier
  • Antignac, Corinne
  • Michaud, Annie
  • Corvol, Pierre
Type
Published Article
Journal
Bulletin de l'Académie nationale de médecine
Publication Date
Feb 01, 2014
Volume
198
Issue
2
Identifiers
PMID: 26263708
Source
Medline
License
Unknown

Abstract

Renal tubular dysgenesis is a severe disease characterized by the absence of differentiated proximal tubules, leading to fetal anuria and persistent oligohydramnios. The absence of amniotic fluid results in a series of malformations, including facial dysmorphia, limb deformation and also lung hypoplasia, leading to respiratory distress at birth. The disease is linked to mutations in the AGT, REN ACE andAGTR1 genes that compose the renin-angiotensin system (RAS). The absence of functional RAS leads to fetal and neonatal hypotension, renal hypoperfusion, and tubular dysgenesis. The use of cellular models expressing these mutations has advanced our understanding of the structure-function relationship of RAS proteins, notably by showing that defective misfolded proteins undergo either intracellular accumulation and retention, or rapid degradation. Moreover, these studies confirm that ACE has to be inserted in the plasma membrane to be active.

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