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

Apolipoprotein polymorphism and multifactorial hyperlipidaemia.

G Utermann1

  • 1Institute of Medical Biology and Genetics, University of Innsbruck, Austria.

Journal of Inherited Metabolic Disease
|January 1, 1988
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

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Clinical genetics·2013
Same author

Lipoprotein(a): resurrected by genetics.

Journal of internal medicine·2012
Same author

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Cytogenetic and genome research·2012
Same author

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

Clinical genetics·2010
Same author

Whole genome amplification from microdissected chromosomes.

Cytogenetic and genome research·2009
Same author

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

Journal of medical genetics·2007
Same journal

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Journal of inherited metabolic disease·2026
Same journal

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.

Journal of inherited metabolic disease·2026
Same journal

Immune Dysregulation in Branched Chain Organic Acidemias.

Journal of inherited metabolic disease·2026
Same journal

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Journal of inherited metabolic disease·2026
Same journal

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal of inherited metabolic disease·2026
Same journal

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Journal of inherited metabolic disease·2026
See all related articles

Genetic variations in apolipoproteins influence lipoprotein levels and hyperlipidemia risk. Specific apolipoprotein E (apoE) alleles are linked to familial hypercholesterolemia and type III hyperlipidemia.

Area of Science:

  • Human genetics
  • Molecular biology
  • Biochemistry

Background:

  • Apolipoproteins AIV, B, E, and Lp(a) glycoprotein are genetically polymorphic in humans.
  • Apolipoprotein E (apoE) polymorphism involves three common alleles (epsilon 2, epsilon 3, epsilon 4) affecting protein function and lipoprotein metabolism.
  • Lp(a) lipoprotein concentration is controlled by a separate gene locus with at least seven autosomal alleles influencing size polymorphism.

Purpose of the Study:

  • To investigate the relationship between genetic variability in apolipoproteins and plasma lipoprotein concentrations.
  • To elucidate the role of apoE alleles in the etiology of multifactorial hyperlipidemias.
  • To understand the genetic control of Lp(a) lipoprotein concentration and size polymorphism.

Main Methods:

Related Experiment Videos

  • Analysis of genetic polymorphism in apolipoprotein E alleles (epsilon 2, epsilon 3, epsilon 4).
  • Investigation of the genetic control of Lp(a) lipoprotein size polymorphism.
  • Correlation of apoE genotypes with plasma lipoprotein concentrations and hyperlipidemia phenotypes.

    • Main Results:

    • Apolipoprotein E alleles significantly affect plasma lipoprotein concentrations and are implicated in familial hypercholesterolemia (apoE4) and type III hyperlipidemia (apoE2).
    • Genetic size polymorphism of Lp(a) glycoprotein is controlled by at least seven autosomal alleles.
    • These Lp(a) alleles determine plasma concentrations ranging from <1 mg/dl to >200 mg/dl.

    Conclusions:

    • Genetic variability in apolipoproteins is a key factor in population-level lipoprotein concentration variability.
    • Specific apolipoprotein genetic variations are implicated in the etiology of multifactorial hyperlipidemias.
    • The findings highlight the significant impact of genetic factors on lipid metabolism and cardiovascular disease risk.