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

Probing cataractogenesis associated with mevalonic aciduria

R J Cenedella1, P S Sexton

  • 1Department of Biochemistry, Kirksville College of Osteopathic Medicine, Kirksville, MO 63501, USA. debbiek@fileserver5.kcom.edu

Current Eye Research
|April 2, 1998
PubMed
Summary

High mevalonic acid levels in mevalonic aciduria may directly cause cataracts. Studies show mevalonic acid exposure induces lens opacification and nuclear cataracts in rats, suggesting toxicity to lens membranes.

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

Specific labeling of lens aldehyde dehydrogenase class 1 from (3)H-cholesterol or its derivatives.

Ophthalmic research·2001
Same author

Characterization of membrane steroid binding protein mRNA and protein in lens epithelial cells.

Experimental eye research·2001
Same author

Evidence for distinct cholesterol domains in fiber cell membranes from cataractous human lenses.

The Journal of biological chemistry·2001
Same author

Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis.

Neurochemical research·2000
Same author

Cholesterol synthesis in the vertebrate retina: effects of U18666A on rat retinal structure, photoreceptor membrane assembly, and sterol metabolism and composition.

Lipids·2000
Same author

Direct evidence for immiscible cholesterol domains in human ocular lens fiber cell plasma membranes.

The Journal of biological chemistry·1999

Area of Science:

  • Biochemistry
  • Ophthalmology
  • Genetics

Background:

  • Mevalonic aciduria is a genetic disorder caused by mevalonate kinase deficiency.
  • It leads to elevated mevalonic acid levels, developmental issues, and cataracts.

Purpose of the Study:

  • To investigate if accumulated mevalonic acid directly causes cataracts in mevalonic aciduria.
  • To explore the toxic effects of mevalonic acid on lens tissue.

Main Methods:

  • Cultured young rat lenses in media with varying concentrations of mevalonic acid (1-5 mM).
  • Monitored lens water, sodium, and potassium content.
  • Analyzed protein leakage, cation flux (using 86Rb uptake), and mevalonic acid concentration in lenses.

Main Results:

Related Experiment Videos

  • Mevalonic acid exposure (3-5 mM) induced lens opacification and nuclear cataracts within 1-2 days.
  • Treated lenses showed increased water and sodium, decreased potassium, and loss of gamma crystallin.
  • A decline in 86Rb uptake preceded these changes, indicating cation pump dysfunction or membrane damage.

Conclusions:

  • Chronic mevalonic acid exposure can induce cataracts via increased lens cell membrane permeability.
  • Mevalonic acid toxicity is a likely cause of cataracts in mevalonic aciduria patients.