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

The E326K mutation and Gaucher disease: mutation or polymorphism?

J K Park1, N Tayebi, B K Stubblefield

  • 1Section on Molecular Neurogenetics, National Institute of Mental Health, NIH, Bethesda, MD 20892, USA.

Clinical Genetics
|March 21, 2002
PubMed
Summary

The E326K mutation in Gaucher disease may be a common polymorphism. Researchers found this mutation in both Gaucher patients and healthy individuals, suggesting it may not always cause disease.

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

DIFFERENT PATTERNS OF DNA REPLICATION INHIBITION BY BENZO(A)PYRENE AND 3-METHYLCHOLANTHRENE IN MAMMALIAN CELLS IN VITRO.

In vitro toxicology·2018
Same author

Onion (Allium cepa L.) peel extract (OPE) regulates human sperm motility via protein kinase C-mediated activation of the human voltage-gated proton channel.

Andrology·2017
Same author

Effects of eupatilin on the contractility of corpus cavernosal smooth muscle through nitric oxide-independent pathways.

Andrology·2017
Same author

Catheter probe endoscopic ultrasonography by using cold lubricating jelly-filled method for esophageal subepithelial tumors.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus·2017
Same author

Identification of lactoferrin and glutamate receptor-interacting protein 1 in bovine cervical mucus: A putative marker for oestrous detection.

Reproduction in domestic animals = Zuchthygiene·2016
Same author

Cavernosum smooth muscle relaxation induced by Schisandrol A via the NO-cGMP signaling pathway.

Cellular and molecular biology (Noisy-le-Grand, France)·2016

Area of Science:

  • Genetics
  • Biochemistry
  • Lysosomal Storage Diseases

Background:

  • Gaucher disease results from mutations in the glucocerebrosidase gene.
  • Over 150 glucocerebrosidase mutations are known, but not all are fully characterized as causative.
  • The E326K mutation has been observed in Gaucher disease patients but always with other mutations.

Purpose of the Study:

  • To investigate whether the E326K mutation is a disease-causing mutation or a polymorphism.
  • To determine the frequency of the E326K mutation in Gaucher disease patients and the general population.

Main Methods:

  • Polymerase chain reaction (PCR) screening and restriction digestion were used.
  • Alleles from Gaucher disease patients and normal population controls were analyzed.

Related Experiment Videos

  • Full gene sequencing was performed on normal controls carrying the E326K allele.

    • Main Results:

    • The E326K mutation was detected in 1.3% of Gaucher disease alleles (4/310) and 0.9% of normal control alleles (3/316).
    • Normal controls with the E326K allele showed no other mutations in the glucocerebrosidase gene.
    • The E326K mutation was found on alleles with and without other known causative mutations.

    Conclusions:

    • The E326K mutation may represent a benign polymorphism.
    • Caution is advised when interpreting the E326K mutation; co-occurring mutations should be investigated.
    • Further characterization is needed to definitively establish the pathogenicity of the E326K mutation in Gaucher disease.