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

A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia.

Y Yamanouchi1, T Takano, H Hamaguchi

  • 1Department of Hygiene and Public Health, Teikyo University School of Medicine, Tokyo, Japan.

Journal of Human Genetics
|November 28, 2001
PubMed
Summary

A novel apolipoprotein E (apo E) gene variant, apo E5ss, was identified in a patient with high lipid levels. This variant, caused by a 24-bp insertion, may contribute to dyslipidemia.

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 and environmental factors affecting peak bone mass in premenopausal Japanese women.

Environmental health and preventive medicine·2011
Same author

"Dropped head syndrome" caused by Lambert-Eaton myasthenic syndrome.

Muscle & nerve·2009
Same author

Treatment of adult AML with t(6;11)(q27;q23) by allogeneic hematopoietic SCT in the first CR.

Bone marrow transplantation·2008
Same author

In vivo measurement of human dermis by 1064 nm-excited fiber Raman spectroscopy.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·2008
Same author

Discovery of metaflumizone, a novel semicarbazone insecticide.

Veterinary parasitology·2007
Same author

Improving symptoms of senile dementia by a night-time spa bathing.

Archives of gerontology and geriatrics·2004

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Apolipoprotein E (apo E) plays a crucial role in lipid metabolism.
  • Genetic variations in the apo E gene are associated with lipid disorders.
  • Understanding novel apo E variants is important for diagnosing and managing dyslipidemias.

Observation:

  • A patient presented with elevated triglyceride, apolipoprotein (apo) CII, and apo CIII levels.
  • A novel tandem 24-bp insertion in the apo E gene, termed apo E5ss, was detected in this patient.
  • Isoelectric focusing showed apo E5ss in the apo E5 position, and 2D gel electrophoresis indicated a larger molecular weight compared to apo E3.

Findings:

  • Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) enabled rapid detection of the apo E allele variant.

Related Experiment Videos

  • The apo E5ss variant likely results from a 24-bp insertion due to slipped mispairing, causing a tandem duplication of amino acid residues 135-142.
  • This apo E5ss variant was found in only one individual among 806 Japanese males examined, suggesting its rarity.

    • Implications:

    • The apo E5ss variant represents a new genetic factor potentially contributing to dyslipidemia.
    • Further research into the functional consequences of this 24-bp insertion is warranted.
    • Identification of rare apo E variants like apo E5ss aids in understanding the genetic basis of complex lipid disorders.