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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
This summary is machine-generated.

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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.

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.