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Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism
Y Xia1, H A Rohan de Silva, B L Rosi
1Department of Neurosciences, School of Medicine, UCSD, La Jolla, CA 92093-0949, USA.
Annals of Neurology
|August 1, 1996
Summary
The non-amyloid component (NAC) of Alzheimer's disease amyloid is linked to presynaptic terminals. Genetic studies found no direct link between NAC precursor protein (NACP) and Alzheimer's, but identified a potentially protective NACP allele.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- The non-amyloid component (NAC) of Alzheimer's disease amyloid is found in brain tissue and amyloid fibrils.
- NAC is a peptide fragment derived from the NAC precursor protein (NACP), also known as alpha-synuclein, located at presynaptic terminals.
Purpose of the Study:
- To investigate the genetic association and linkage of the NACP gene with Alzheimer's disease.
- To explore the potential role of NACP polymorphisms in Alzheimer's disease pathogenesis or protection.
Main Methods:
- Utilized a polymorphic dinucleotide repeat sequence in a genomic clone of NACP.
- Conducted genetic association and linkage studies using Alzheimer's disease families and healthy elderly controls.
Main Results:
- No significant linkage was established between the NACP gene and Alzheimer's disease.
- A specific NACP polymorphism (NACP allele 2) showed a significant association with healthy elderly individuals who also carried the apolipoprotein E risk factor.
Conclusions:
- The NACP gene is not directly linked to Alzheimer's disease.
- NACP allele 2 may confer a protective effect against Alzheimer's disease, particularly in the presence of apolipoprotein E risk.