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Related Concept Videos

Nephrons01:10

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The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
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Related Experiment Video

Updated: Apr 13, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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LRP5 variants may contribute to ADPKD.

Wybrich R Cnossen1, René H M te Morsche1, Alexander Hoischen2

  • 1Department of Gastroenterology and Hepatology, Institute for Genetic & Metabolic Disease (IGMD), Radboud Institute for Molecular LifeSciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands.

European Journal of Human Genetics : EJHG
|April 30, 2015
PubMed
Summary

Genetic variants in the LRP5 gene are linked to autosomal dominant polycystic kidney disease (ADPKD) in some patients lacking PKD1 or PKD2 mutations. This finding expands the genetic understanding of ADPKD and suggests new research directions.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Nephrology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is primarily caused by mutations in PKD1 or PKD2.
  • A subset of ADPKD patients lack mutations in known ADPKD genes.
  • Low density lipoprotein Receptor-related Protein 5 (LRP5) is implicated in polycystic liver disease.

Purpose of the Study:

  • To investigate the role of LRP5 in ADPKD patients without mutations in known genes.
  • To identify novel genetic contributors to sporadic and unlinked ADPKD.

Main Methods:

  • Genetic analysis of 79 unrelated ADPKD patients.
  • In silico prediction of variant pathogenicity.
  • Segregation analysis in a family with ADPKD.
  • Luciferase activity assays to assess Wnt signaling pathway activation.

Main Results:

  • Four potentially pathogenic LRP5 variants were identified in the ADPKD cohort.
  • One LRP5 variant (c.1680G>T; p.(Trp560Cys)) segregated with ADPKD in a family.
  • Three LRP5 variants significantly reduced canonical Wnt signaling activation.

Conclusions:

  • LRP5 variants may contribute to ADPKD in a subset of patients.
  • This study broadens the genetic landscape of ADPKD.
  • The Wnt signaling pathway is a potential therapeutic target for ADPKD.