Beruflich Dokumente
Kultur Dokumente
2.0
2.0 0.50 0.55
Usefulness of Biomarkers
Prediction of who will develop the disease. Help in differential diagnoses. Measure of rate of disease progression. Analysis of new therapeutics.
AD pathological changes
Plaques (Ab)
Tangles (phospho-tau)
CSF biomarkers
Low Ab42 levels
Indicative of the presence of amyloid plaques.
Genetic factors
Causative mutations in DNA Polymorphisms in DNA that change the risk of AD
Presenilins (1 & 2)
Part of protein complex that cleaves APP to generate Ab. Large extended family in Colombia.
APOE alleles: APOE-e2 (8%) APOE-e3 (78%) APOE-e4 (14%) Polymorphisms in the APOE gene affect the amino acids that make up the apoE protein.
MJ LaDu
APOE
ID of risk genes
2009
www.alzgene.org
BIN1 ABCA7 CR1 PICALM MS4A6A CD33 MS4A4E CD2AP
Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE. (2007) "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39(1): 17-23
MAF 0.29
0.29 0.21 0.40 0.26 0.31
Cases 6,283
6,283 6,283 6,283 6,992 6,283
OR
0.89
SNP: single nucleotide polymorphism MAF: minor allele frequency OR: Odds Ratio
Conclusions
CSF measures of Ab and tau may be helpful on diagnosis of AD. APOE is the main genetic risk factor for AD. Other genes (e.g. APOJ) contribute to AD risk, and provide information for basic research.