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 Experiment Videos

Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding.

Ramin Sam1, Henry Wu, Lily Yue

  • 1Division of Nephrology, Stroger Hospital of Cook County, Chicago, IL 60612, USA. rsam29@aol.com

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|February 24, 2006
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Can one use serum Lactate Concentration to Correct for the Anion gap?

Journal of intensive care medicine·2026
Same author

Classifying Hyponatremias According to Tonicity Disorder: Hypotonic Hyponatremia, Hypertonic Hyponatremia, and Pseudohyponatremia as Distinct Entities.

Cureus·2025
Same author

One-year outcomes of Bent ab-interno needle goniectomy with phacoemulsification in primary glaucoma.

Indian journal of ophthalmology·2025
Same author

Phase 2a Study of Baxdrostat in Primary Aldosteronism.

The New England journal of medicine·2025
Same author

Forum of ESRD Networks: 50 Years of Collaboration, Innovation, and Education to Promote Equitable and Optimal Kidney-Patient Centered Care.

Clinical journal of the American Society of Nephrology : CJASN·2025
Same author

Influence of Retinopathy of Prematurity and Laser Therapy on Intraocular Pressure in Preterm Infants.

Journal of glaucoma·2025

This study reports a rare case of lipoprotein glomerulopathy in the US, linked to a new apolipoprotein E gene mutation. The mutation enhances lipid binding in kidney glomeruli, causing kidney damage.

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Lipoprotein glomerulopathy is a rare kidney disease characterized by lipid deposition in glomeruli.
  • The apolipoprotein E (ApoE) gene plays a crucial role in lipid metabolism and transport.

Observation:

  • A case of lipoprotein glomerulopathy was identified in a Mexican man in the United States, the second reported case in the country.
  • The patient presented with a novel mutation in the apolipoprotein E gene: proline substitution for arginine at position 147 (Arg147Pro).
  • Kidney biopsy revealed glomerular basement membrane double contours and mesangial extensions, indicative of potential lipid-induced endothelial injury.

Findings:

  • Immunofluorescence staining of thrombi showed positivity for apolipoprotein E and B.

Related Experiment Videos

  • In vitro studies demonstrated enhanced binding of the patient's serum ApoE to glomerular capillaries compared to a healthy control.
  • Apolipoprotein E genotyping confirmed the patient was a carrier of the wild-type E3/E3 genotype, despite the identified mutation.

    • Implications:

    • This case highlights a previously undescribed mutation in the apolipoprotein E gene associated with lipoprotein glomerulopathy.
    • The findings suggest that this specific ApoE mutation enhances lipid deposition in the glomeruli, contributing to kidney disease.
    • Understanding the molecular mechanisms of this mutation can inform future diagnostic and therapeutic strategies for lipoprotein glomerulopathy.