familial Alzheimer's disease type 1 (FAD1), APP associated

FAD1 results from mutations in the gene for the amyloid precursor protein (APP) leading to increased production of the amyloid A4 peptide & increased deposition of A4 in amyloid plaques. Genetics: 9 such mutations are known (as of 01/2002). 1) the Swedish double mutation precedes the beta-secretase cleavage site (2 sites) 2) 5 mutations occur just C-terminal to the gamma-secretase site 3) the other 2 sites are within the A4 region near the alpha-secretase site -> there is some evidence that 1 of these sites increases the tendency for A4 to precipitate Laboratory: - APP gene mutation

Related

A4 amyloid peptide; beta-peptide amyloid precursor protein (APP) or A4/beta amyloid precursor protein APP secretase

Specific

Dutch-type cerebral amyloid angiopathy FAD APP A692G mutation (FAD1) familial Alzheimer's disease [APP/VAL717GLY] familial Alzheimer's disease [APP/VAL717ILE] familial Alzheimer's disease [APP/VAL717PHE] Swedish FAD double mutation (FAD1)

Database Correlations

OMIM 104760 MORBIDMAP 104760 Entrez Gene 351

References

- Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: 11274343