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

ARH missense polymorphisms and plasma cholesterol levels.

Jaroslav A Hubacek1, Tommy Hyatt

  • 1Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA. jahb@medicon.cz

Clinical Chemistry and Laboratory Medicine
|October 23, 2004
PubMed
Summary

Genetic variations in the ARH gene, linked to cholesterol regulation, were studied. These specific ARH polymorphisms do not appear to significantly influence plasma cholesterol levels in Caucasian males.

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

Genetic risk score as a predictor of gestational diabetes in Central European Caucasians.

Scientific reports·2026
Same author

Low Statin Doses Have No Effect on Plasma Concentrations of cfDNA or Muscle-Specific miRNA.

Folia biologica·2026
Same author

Changes in plasma concentration of cell-free DNA in response to physical activity.

Archives of medical science : AMS·2025
Same author

Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival.

Frontiers in cardiovascular medicine·2025
Same author

Elevated plasma levels of cell-free mtDNA are associated with acute rejection following heart transplantation.

Journal of applied biomedicine·2025
Same author

Genetic drivers of liver cirrhosis: The role of SERPINA1 and PNPLA3 variants in disease onset and progression.

PloS one·2025

Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Mutations in the LDL receptor adaptor protein ARH are linked to autosomal recessive hypercholesterolemia.
  • ARH plays a critical role in regulating low-density lipoprotein (LDL) receptor function.
  • Three specific ARH gene polymorphisms (Pro202Ser, Pro202His, Arg238Trp) are of interest for their potential impact on cholesterol levels.

Purpose of the Study:

  • To investigate the association between specific ARH gene polymorphisms and plasma cholesterol levels.
  • To determine if ARH variations contribute to determining high or low total plasma cholesterol.

Main Methods:

  • PCR and restriction enzyme analysis (MnII, HpyCH4IV, SacII) were used.
  • Genotyping was performed on 100 Caucasian males with high cholesterol and 100 with low cholesterol.

Related Experiment Videos

Main Results:

  • No significant differences in ARH genotype or allele frequencies were found between the high and low cholesterol groups.
  • The studied ARH polymorphisms did not show a correlation with extreme plasma cholesterol levels.

Conclusions:

  • The investigated ARH polymorphisms are unlikely to be major genetic determinants of plasma cholesterol levels.
  • Further research may be needed to explore other genetic factors influencing cholesterol homeostasis.