NamePSEN1
OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeDominant
StrainN/A
DescriptionMutation is associated with Alzheimer’s disease (AD). More than 60 different mutations have been identified for PSEN1. All the mutations result in increased production of abnormally long amyloid beta-protein and an increase in senile plaque formation (Van Gassen and Van Broeckhoven, 2000).
Gene Functionpresenilin 1 is part of the protein complex (gamma-secretase) that cleaves APP.
Other PhenotypesAlzheimer`s disease (AD) is characterized by gradual, progressive loss in cognitive functioning and changes in personality due to severe brain atrophy. Postmortem detection of extensive neuronal death, senile plaques and neurofibrillary tangles are diagnostic. Using polymorphic DNA markers and an analysis of DNA from families with autosomal-domant AD, a locus linked to AD was identified on chromosome 14 (Schellenberg et al, 1992).
HomologsC.e. Sel-12, Hop-1, Spe-4
D.m. PSN
R.n. PSEN1, PSEN2
M.m. PSEN1, PSEN2
H.s. PSEN2
Primary ReferenceSchellenberg, G. D., Bird, T. D., Wijsman, E. M., Orr, H. T., Anderson, L., Nemens, E., White, J. A., Bonnycastle, L., Weber, J. L., Alonso, M. E., and et al. (1992). Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Scie [Abstract]
Other ReferencesVan Gassen, P. H., and Van Broeckhoven, C. (2000). Molecular genetics of Alzheimer's disease: what have we learned? Act Neurolog Belg 100, 65-76.
Relevant LinksLocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=5663
OMIM: http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=104311
KeywordsAlzheimer's disease, H. sapeins, human, neuron, neurodegenrative