Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland - PubMed (original) (raw)
doi: 10.1016/S0014-4886(03)00384-4.
Maria Styczyńska, Beata Pepłońska, Tomasz Gabryelewicz, Dorota Religa, Jan Ilkowski, Beata Kijanowska-Haładyna, Sławomira Kotapka-Minc, Sanne Mikkelsen, Anna Pfeffer, Anna Barczak, Elzbieta Łuczywek, Bogusław Wasiak, Małgorzata Chodakowska-Zebrowska, Katarzyna Gustaw, Jarosław Łaczkowski, Tomasz Sobów, Jacek Kuźnicki, Maria Barcikowska
Affiliations
- PMID: 14769392
- DOI: 10.1016/S0014-4886(03)00384-4
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland
Cezary Zekanowski et al. Exp Neurol. 2003 Dec.
Abstract
Mutations in three causative genes have been identified in patients with an autosomal-dominant form of early-onset Alzheimer's disease (EOAD). To determine the spectrum of mutations in a group consisting of 40 Polish patients with clinically diagnosed familial EOAD and 1 patient with mild cognitive impairment (MCI) and family history of AD, we performed a screening for mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP) genes. Four previously recognized pathogenic mutations in PSEN1 gene (H163R, M139V) and APP gene (T714A, V715A), and three novel putative mutations in PSEN1 gene (P117R and I213F) and PSEN2 gene (Q228L) were identified. The 34 patients with no mutations detected were older than the patients with mutations. A frequency of APOE4 allele was higher in this group. Frequency of mutations is relatively low (17%), possibly due to used operational definition of a patient with familial EOAD (a patient having at least one relative with early-onset dementia). It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.
Similar articles
- A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R. Ezquerra M, et al. Arch Neurol. 2003 Aug;60(8):1149-51. doi: 10.1001/archneur.60.8.1149. Arch Neurol. 2003. PMID: 12925374 - Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
Raux G, Guyant-Maréchal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Raux G, et al. J Med Genet. 2005 Oct;42(10):793-5. doi: 10.1136/jmg.2005.033456. Epub 2005 Jul 20. J Med Genet. 2005. PMID: 16033913 Free PMC article. - A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease.
Scacchi R, Gambina G, Moretto G, Corbo RM. Scacchi R, et al. Neurosci Lett. 2007 May 18;418(3):282-5. doi: 10.1016/j.neulet.2007.03.035. Epub 2007 Mar 21. Neurosci Lett. 2007. PMID: 17412506 - [Genes in Alzheimer's disease].
Hoenicka J. Hoenicka J. Rev Neurol. 2006 Mar 1-15;42(5):302-5. Rev Neurol. 2006. PMID: 16538594 Review. Spanish. - [Genetic factors and a polygenic model of Alzheimer's disease].
Rogaev EI. Rogaev EI. Genetika. 1999 Nov;35(11):1558-71. Genetika. 1999. PMID: 10624576 Review. Russian.
Cited by
- Intergenerational epigenetic inheritance mediated by MYS-2/MOF in the pathogenesis of Alzheimer's disease.
Li Y, Bai H, Liu W, Zhou W, Gu H, Zhao P, Zhu M, Li Y, Yan X, Zhao N, Huang X. Li Y, et al. iScience. 2024 Jul 25;27(8):110588. doi: 10.1016/j.isci.2024.110588. eCollection 2024 Aug 16. iScience. 2024. PMID: 39220410 Free PMC article. - Association between depression and young-onset dementia in middle-aged women.
Yoo JE, Yoon DH, Jin EH, Han K, Choi SY, Choi SH, Bae JH, Park KI. Yoo JE, et al. Alzheimers Res Ther. 2024 Jun 26;16(1):137. doi: 10.1186/s13195-024-01475-y. Alzheimers Res Ther. 2024. PMID: 38926887 Free PMC article. - Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Liu Y, Xiao X, Liu H, Liao X, Zhou Y, Weng L, Zhou L, Liu X, Bi XY, Xu T, Zhu Y, Yang Q, Zhang S, Hao X, Zhang W, Wang J, Jiao B, Shen L. Liu Y, et al. Front Aging Neurosci. 2022 Oct 14;14:1013295. doi: 10.3389/fnagi.2022.1013295. eCollection 2022. Front Aging Neurosci. 2022. PMID: 36313020 Free PMC article. - Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J, Bagyinszky E, An SSA. Bagaria J, et al. Int J Mol Sci. 2022 Sep 19;23(18):10970. doi: 10.3390/ijms231810970. Int J Mol Sci. 2022. PMID: 36142879 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical