Genetics of Alzheimer's disease - PubMed (original) (raw)
Review
Genetics of Alzheimer's disease
M Hutton et al. Essays Biochem. 1998.
Abstract
Mutations in any one of three genes can cause autosomal dominant, early-onset Alzheimer's disease: these genes are the amyloid precursor protein (APP) gene on chromosome 21, the presenilin-1 (PS-1) gene on chromosome 14 and the presenilin-2 (PS-2) gene on chromosome 1. Pathogenic mutations at all these loci cause mismetabolism of APP such that more of the peptide A beta 42 is produced. This peptide is deposited in the plaques in the brains of Alzheimer's patients. These facts have led to the dominant hypothesis for the disease process: the 'amyloid cascade hypothesis', which proposes that overproduction or failure to clear the peptide A beta 42 is always central to the disease. Genetic variability at the apoliprotein E locus is a major determinant of late onset Alzheimer's disease. The mechanism by which apoliprotein E is involved in the pathogenesis of Alzheimer's disease is not yet known. There are likely to be other genetic factors which impinge on Alzheimer's disease.
Similar articles
- [Recent advances in the studies on Alzheimer's diseases].
Tsuji S. Tsuji S. Rinsho Shinkeigaku. 1998 Dec;38(12):983-7. Rinsho Shinkeigaku. 1998. PMID: 10349334 Review. Japanese. - Molecular genetics of Alzheimer's disease.
St George-Hyslop PH. St George-Hyslop PH. Biol Psychiatry. 2000 Feb 1;47(3):183-99. doi: 10.1016/s0006-3223(99)00301-7. Biol Psychiatry. 2000. PMID: 10682216 Review. - [Alzheimer's disease. Present and future role of genetics].
Roks G. Roks G. Tijdschr Gerontol Geriatr. 2003 Feb;34(1):13-20. Tijdschr Gerontol Geriatr. 2003. PMID: 12629906 Dutch. - Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.
Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, Kholodenko D, Motter R, Sherrington R, Perry B, Yao H, Strome R, Lieberburg I, Rommens J, Kim S, Schenk D, Fraser P, St George Hyslop P, Selkoe DJ. Citron M, et al. Nat Med. 1997 Jan;3(1):67-72. doi: 10.1038/nm0197-67. Nat Med. 1997. PMID: 8986743 - Molecular genetics of Alzheimer's disease.
Goate AM. Goate AM. Geriatrics. 1997 Sep;52 Suppl 2:S9-12. Geriatrics. 1997. PMID: 9307578 Review.
Cited by
- Interaction of Proteins Involved in Neuronal Proteinopathies.
Kulichikhin KY, Malikova OA, Zobnina AE, Zalutskaya NM, Rubel AA. Kulichikhin KY, et al. Life (Basel). 2023 Sep 23;13(10):1954. doi: 10.3390/life13101954. Life (Basel). 2023. PMID: 37895336 Free PMC article. Review. - Synaptic transmission block by presynaptic injection of oligomeric amyloid beta.
Moreno H, Yu E, Pigino G, Hernandez AI, Kim N, Moreira JE, Sugimori M, Llinás RR. Moreno H, et al. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5901-6. doi: 10.1073/pnas.0900944106. Epub 2009 Mar 20. Proc Natl Acad Sci U S A. 2009. PMID: 19304802 Free PMC article. - Pathological Roles of INPP5D in Alzheimer's Disease.
Chu YN, Akahori A, Takatori S, Tomita T. Chu YN, et al. Adv Exp Med Biol. 2023;1423:289-301. doi: 10.1007/978-3-031-31978-5_30. Adv Exp Med Biol. 2023. PMID: 37525057 - The Alzheimer's disease beta-secretase enzyme, BACE1.
Cole SL, Vassar R. Cole SL, et al. Mol Neurodegener. 2007 Nov 15;2:22. doi: 10.1186/1750-1326-2-22. Mol Neurodegener. 2007. PMID: 18005427 Free PMC article. - Monitoring β-secretase activity in living cells with a membrane-anchored FRET probe.
Folk DS, Torosian JC, Hwang S, McCafferty DG, Franz KJ. Folk DS, et al. Angew Chem Int Ed Engl. 2012 Oct 22;51(43):10795-9. doi: 10.1002/anie.201206673. Epub 2012 Sep 28. Angew Chem Int Ed Engl. 2012. PMID: 23023944 Free PMC article. No abstract available.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical