PLASMA A BETA AS A SURROGATE GENETIC MARKER FOR LOAD

Project: Research project

Project Details

Description

DESCRIPTION: The identification of mutations in the APP, PS1, and PS2 genes
that cause early-onset familial Alzheimer's disease (AD), the demonstration
that these mutations all increase Abeta42, and the discovery of an association
between Apolipoprotein E4 and late-onset Alzheimer's disease have dramatically
improved our understanding of Alzheimer's disease. It is clear, however, that
much of the genetic risk in late onset Alzheimer's disease remains unexplained.
Current strategies to identify other genes that affect late-onset Alzheimer's
disease have met with limited success often because of the difficulty
associated with obtaining late-onset families with sufficient power for
reliable linkage analysis. Genetic studies using large numbers of small
families or sib-pairs, to increase the power of the analysis, are also
currently being performed by several groups however difficulties with the
non-replication of positive loci, identified by different studies, has
continued. It will also be difficult to identify the biologically relevant
genetic variability using loci identified by this type of small family/sib pair
analysis, as candidate regions tend to be large and poorly defined.

In this proposal we describe how high plasma ABeta levels can be used as a
surrogate phenotype to increase the power of late-onset AD families allowing
not only the reliable linkage of a specific chromosomal region with disease but
also facilitating the identification of the genetic variability that is
responsible for the increased plasma Abeta42 and for the increased risk of
developing Alzheimer's disease.
StatusFinished
Effective start/end date4/1/005/31/15

Funding

  • National Institute on Aging: $348,075.00
  • National Institute on Aging: $348,075.00

ASJC

  • Medicine(all)

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