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

[Molecular genetics in pure primary hypercholesterolemia]

P Benlian1, F Dairou, J L de Gennes

  • 1Service d'Endicronologie Métabolisme, Groupe Hospitalier Pitié Salpêtrière, Paris.

Bulletin De L'Academie Nationale De Medecine
|March 1, 1994
PubMed
Summary
This summary is machine-generated.

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

[Epidemiology of age related macular degeneration].

Journal francais d'ophtalmologie·2009
Same author

Nutritional AMD treatment phase I (NAT-1): feasibility of oral DHA supplementation in age-related macular degeneration.

European journal of ophthalmology·2009
Same author

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Journal of medical genetics·2007
Same author

[Blood screening of glucose and lipid disorders as coronary atherosclerosis risks factors in French adolescents 16 to 19-20 years old].

Annales d'endocrinologie·2007
Same author

Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor.

Atherosclerosis·2005
Same author

Combination of apolipoprotein E2 and lipoprotein lipase heterozygosity causes severe hypertriglyceridemia during pregnancy.

Diabetes & metabolism·2005

Pure primary hypercholesterolemia involves genetic defects in Low Density Lipoprotein (LDL) metabolism, contributing to atherosclerosis. Candidate gene approaches help identify mutations for targeted therapies and prevention strategies.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Disease Pathogenesis
  • Metabolic Disorders

Context:

  • Pure primary hypercholesterolemia encompasses lipid disorders affecting Low Density Lipoprotein (LDL) metabolism.
  • These disorders are recognized contributors to atherosclerosis development.
  • Genetic and environmental factors influence pathogenesis, with key roles for the LDL receptor and apolipoprotein B genes.

Purpose:

  • To address the genetic heterogeneity of primary hypercholesterolemia.
  • To explore the utility of the candidate gene approach in identifying causative mutations.
  • To guide therapeutic strategies and predictive diagnostics for these lipid disorders.

Summary:

  • Defects in major genes like the LDL receptor and apolipoprotein B contribute to primary hypercholesterolemia.

Related Experiment Videos

  • The candidate gene approach, using molecular techniques, aids in overcoming genetic heterogeneity.
  • This method facilitates predictive diagnosis, mutation identification, and personalized therapeutic strategies.

    • Impact:

    • Recognition of new inborn errors of metabolism with defined molecular bases.
    • Identification of remaining genetic defects underlying primary hypercholesterolemia.
    • Potential for developing novel preventive strategies targeting the genetic predisposition to atherosclerosis.