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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Quantitative 3D In Silico Modeling (q3DISM) of Cerebral Amyloid-beta Phagocytosis in Rodent Models of Alzheimer's Disease
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ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain.

Liisa Myllykangas1, Tuomo Polvikoski, Karoliina Reunanen

  • 1Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

American Journal of Medical Genetics
|March 29, 2002
PubMed
Summary
This summary is machine-generated.

The common ApoE epsilon3 allele

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Published on: March 7, 2019

Area of Science:

  • Neuroscience
  • Genetics
  • Alzheimer's Disease Research

Background:

  • The ApoE epsilon4 allele is a known risk factor for Alzheimer's disease (AD) and increased beta-amyloid deposition.
  • However, many AD patients lack the ApoE epsilon4 allele, indicating other genetic factors influence AD risk.
  • Investigating variations within other ApoE alleles, like epsilon3, is crucial for a comprehensive understanding of AD pathogenesis.

Purpose of the Study:

  • To investigate whether the haplotype background of the ApoE epsilon3 allele influences brain amyloid deposition and the risk of Alzheimer's disease (AD).
  • To analyze the impact of specific ApoE promoter and intron polymorphisms on AD risk and amyloid pathology, independent of ApoE protein variation.

Main Methods:

  • Analysis of a population-based sample of elderly Finns, focusing on subjects homozygous for the ApoE epsilon3 allele.
  • Haplotype definition using polymorphisms at positions -491 and -219 of the ApoE promoter and +113 of intron-1.
  • Comparison of amyloid deposition and neuropathologically verified AD risk between different epsilon3-haplotypes.

Main Results:

  • Epsilon3-haplotypes carrying the -219T promoter allele were associated with reduced beta-amyloid deposition in the brain.
  • These epsilon3-haplotypes (-219T) were also linked to a decreased risk of neuropathologically verified Alzheimer's disease (AD).
  • Conversely, epsilon3-haplotypes with the -219G promoter allele showed higher amyloid burden and increased AD risk.

Conclusions:

  • The haplotype background of the ApoE epsilon3 allele significantly modulates brain amyloid deposition and Alzheimer's disease (AD) risk.
  • Genetic variations within the ApoE gene region, beyond the protein polymorphism, are important determinants of AD.
  • Further research is needed to identify the specific functional polymorphism(s) responsible for these observed haplotypic differences.