Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

2.4K
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
2.4K
Fibril-associated Collagen01:11

Fibril-associated Collagen

2.7K
Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
2.7K
Renal Corpuscle01:20

Renal Corpuscle

3.4K
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.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
3.4K
Collagens are the Major Structural Proteins of ECM01:13

Collagens are the Major Structural Proteins of ECM

4.5K
Three main types of fibers are secreted by fibroblasts: collagen fibers, elastic fibers, and reticular fibers. Collagen fiber is made from fibrous protein subunits linked together to form a long, straight fiber. Collagen fibers, while flexible, have great tensile strength, resist stretching, and give ligaments and tendons their characteristic resilience and strength. These fibers hold connective tissues together, even during the body's movement.
Connective tissue proper includes loose...
4.5K
Structural Protein Function01:56

Structural Protein Function

28.5K
Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
Collagen, the most abundant protein in mammals, is found throughout the body. In connective tissue, such as skin, ligaments, and tendons, it provides tensile strength and elasticity.  In bones and teeth, it mineralizes to...
28.5K
External Anatomy of the Kidney01:21

External Anatomy of the Kidney

1.7K
The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
1.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

From Bench to Bedside: Implications and Interventions for Endotoxin Exposure in Lipopolysaccharide-Induced Apoptosis and Eryptosis.

Blood purification·2026
Same author

Development of a nomogram for predicting kidney replacement therapy and hyperkalemia in acute kidney injury.

Nefrologia·2026
Same author

Dual-Caspase-Mediated Apoptosis Underlies Peritoneal Cell-Free DNA Release After PD-Related Peritonitis.

Genes·2026
Same author

Passenger lymphocyte syndrome after living-donor kidney transplantation with minor ABO incompatibility: a case report.

Blood transfusion = Trasfusione del sangue·2026
Same author

Eryptosis in Acute Patients: A Hypothesis on Its Potential Clinical Impact and Current Gaps in Evidence.

Current issues in molecular biology·2026
Same author

A mechanistic understanding of how KCNE1 tunes KCNQ1 channel pharmacology.

Structure (London, England : 1993)·2026
Same journal

Tissue MicroRNAs in Arrhythmogenic Cardiomyopathy: A Systematic Review of Studies in Human Myocardium and Animal Models with Implications for Post-Mortem Molecular Diagnostics.

Genes·2026
Same journal

Genetic Variants and Dental Caries Susceptibility: An Umbrella Review and Multilevel Meta-Analysis.

Genes·2026
Same journal

Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support.

Genes·2026
Same journal

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Genes·2026
Same journal

Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia.

Genes·2026
Same journal

THBS1 as a Key Regulator of Myoblasts: Validation of Its Inhibitory Roles in Skeletal Muscle Development.

Genes·2026
See all related articles

Related Experiment Video

Updated: Sep 18, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.9K

Collagen Type IV Variants and Kidney Cysts: Decoding the COL4A Puzzle.

Matteo Rigato1,2, Carlotta Caprara1,2,3, J Said Cabrera-Aguilar2,4

  • 1Department of Nephrology, Dialysis and Transplantation, AULSS8 BERICA, San Bortolo Hospital, 36100 Vicenza, Italy.

Genes
|June 26, 2025
PubMed
Summary
This summary is machine-generated.

Pathogenic variants in type IV collagen genes are linked to Alport syndrome and an increased risk of renal cyst formation. This review explores collagen IV defects and their role in cystogenesis, highlighting a broader disease spectrum.

Keywords:
ADPKDAlport syndromeCOL4Acollagen variantscystic kidney diseasekidney cysts

More Related Videos

Fabricating a Kidney Cortex Extracellular Matrix-Derived Hydrogel
08:23

Fabricating a Kidney Cortex Extracellular Matrix-Derived Hydrogel

Published on: October 13, 2018

10.5K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

38.6K

Related Experiment Videos

Last Updated: Sep 18, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.9K
Fabricating a Kidney Cortex Extracellular Matrix-Derived Hydrogel
08:23

Fabricating a Kidney Cortex Extracellular Matrix-Derived Hydrogel

Published on: October 13, 2018

10.5K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

38.6K

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in type IV collagen genes (COL4A3, COL4A4, COL4A5), primarily affecting the glomerular basement membrane (GBM).
  • Recent clinical observations increasingly report renal cyst formation in patients with autosomal dominant and X-linked Alport syndrome, especially those with glycine missense variants.
  • This suggests an overlap in pathogenic mechanisms between Alport syndrome and other inherited cystic kidney diseases.

Purpose of the Study:

  • To review the current evidence linking pathogenic variants in type IV collagen genes to renal cystogenesis in Alport syndrome.
  • To explore the potential molecular mechanisms underlying the development of renal cysts in the context of collagen IV defects.
  • To discuss the implications for broader genetic screening and understanding the emerging cystic phenotype in Alport syndrome.

Main Methods:

  • Review of existing literature, including human studies and murine models, focusing on Alport syndrome and renal cyst formation.
  • Analysis of genetic data and clinical phenotypes associated with variants in COL4A3, COL4A4, and COL4A5 genes.
  • Discussion of the role of collagen IV structural integrity and basement membrane defects in cystogenesis.

Main Results:

  • Pathogenic variants in type IV collagen genes are associated with an increased likelihood of developing renal cysts in Alport syndrome patients.
  • Glycine missense variants in type IV collagen genes are frequently observed in patients presenting with renal cysts.
  • Evidence from animal models and human studies supports the contribution of collagen IV defects to cystogenesis.

Conclusions:

  • Type IV collagen gene variants contribute to a broader spectrum of kidney disease than previously recognized, including renal cyst formation.
  • Defects in collagen IV impact the structural integrity of renal basement membranes, promoting cystogenesis.
  • Further research into the molecular mechanisms of this emerging phenotype is crucial, necessitating broader genetic screening strategies.