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The missing ApoE allele.

D Seripa1, M G Matera, A Daniele

  • 1Laboratory of Geriatrics and Gerontology, Department of Research, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

Annals of Human Genetics
|January 25, 2007
PubMed
Summary
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A rare fourth human apolipoprotein E (APOE) allele, epsilon3r, was identified in a Caucasian patient with motor neuron disease (MND). This discovery expands our understanding of APOE gene polymorphism and its potential implications.

Area of Science:

  • Genetics
  • Neuroscience
  • Human Molecular Biology

Background:

  • The human apolipoprotein E (APOE) gene exhibits common polymorphism with three well-established alleles: epsilon2, epsilon3, and epsilon4.
  • These alleles arise from specific single nucleotide polymorphism (SNP) haplotypes (T-T, T-C, C-C).

Purpose of the Study:

  • To report the detection of a rare fourth APOE allele, designated epsilon3r.
  • To investigate the presence of this allele in a patient diagnosed with motor neuron disease (MND).

Main Methods:

  • Genomic DNA analysis to identify APOE gene haplotypes.
  • Comparison of identified haplotypes with known APOE allele sequences and literature.

Main Results:

  • A rare C-T haplotype, corresponding to a fourth APOE allele (epsilon3r), was identified.

Related Experiment Videos

  • This epsilon3r allele was detected in a Caucasian patient diagnosed with motor neuron disease (MND).

    • Conclusions:

    • The existence of the epsilon3r allele is consistent with evolutionary hypotheses for APOE allele formation.
    • Further research is required to elucidate the rarity and physiological role of the epsilon3r allele, particularly in relation to neurological conditions like MND.