The −22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer’s disease in Poland

Żekanowski, Cezary; Religa, Dorota; Safranow, Krzysztof; Maruszak, Aleksandra; Dziedziejko, Violetta; Styczyńska, Maria; Gacia, Magdalena; Golan, Maciej P.; Pepłońska, Beata; Chlubek, Dariusz; Kuźnicki, Jacek; Barcikowska, Maria

doi:10.1007/s00702-004-0218-8

Cited by 8 publications

(1 citation statement)

References 14 publications

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“…Four identified variants in EOAD patients were screened in the control group and LOAD patients using denaturing high performance liquid chromatography (dHPLC). DHPLC analysis was performed as described previously (for DHPLC temperature for the analysis of PIN1 gene fragments see Additional file 2) [32,33]. Both groups were also screened for SNPs heterozygous in the Polish population (rs4804459, rs2233678, rs2233679, rs2233682, rs2233683, rs2010457).…”

Section: Methodsmentioning

confidence: 99%

PIN1 gene variants in Alzheimer's disease

Maruszak

Safranow

Gustaw³

et al. 2009

BMC Med Genet

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BackgroundPeptidyl-prolyl isomerase, NIMA-interacting 1 (PIN1) plays a significant role in the brain and is implicated in numerous cellular processes related to Alzheimer's disease (AD) and other neurodegenerative conditions. There are confounding results concerning PIN1 activity in AD brains. Also PIN1 genetic variation was inconsistently associated with AD risk.MethodsWe performed analysis of coding and promoter regions of PIN1 in early- and late-onset AD and frontotemporal dementia (FTD) patients in comparison with healthy controls.ResultsAnalysis of eighteen PIN1 common polymorphisms and their haplotypes in EOAD, LOAD and FTD individuals in comparison with the control group did not reveal their contribution to disease risk.In six unrelated familial AD patients four novel PIN1 sequence variants were detected. c.58+64C>T substitution that was identified in three patients, was located in an alternative exon. In silico analysis suggested that this variant highly increases a potential affinity for a splicing factor and introduces two intronic splicing enhancers. In the peripheral leukocytes of one living patient carrying the variant, a 2.82 fold decrease in PIN1 expression was observed.ConclusionOur data does not support the role of PIN1 common polymorphisms as AD risk factor. However, we suggest that the identified rare sequence variants could be directly connected with AD pathology, influencing PIN1 splicing and/or expression.

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Section: Methodsmentioning

confidence: 99%

PIN1 gene variants in Alzheimer's disease

Maruszak

Safranow

Gustaw³

et al. 2009

BMC Med Genet

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Current awareness in geriatric psychiatry

2005

Int J Geriat Psychiatry

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In order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of geriatric psychiatry. Each bibliography is divided into 9 sections: 1 Books, Reviews & Symposia; 2 General; 3 Assessment; 4 Epidemiology; 5 Therapy; 6 Care; 7 Dementia; 8 Depression; 9 Psychology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted

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DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups

et al. 2017

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Improving accuracy of the available predictive DNA methods is important for their wider use in routine forensic work. Information on age in the process of identification of an unknown individual may provide important hints that can speed up the process of investigation. DNA methylation markers have been demonstrated to provide accurate age estimation in forensics, but there is growing evidence that DNA methylation can be modified by various factors including diseases. We analyzed DNA methylation profile in five markers from five different genes (ELOVL2, C1orf132, KLF14, FHL2, and TRIM59) used for forensic age prediction in three groups of individuals with diagnosed medical conditions. The obtained results showed that the selected age-related CpG sites have unchanged age prediction capacity in the group of late onset Alzheimer’s disease patients. Aberrant hypermethylation and decreased prediction accuracy were found for TRIM59 and KLF14 markers in the group of early onset Alzheimer’s disease suggesting accelerated aging of patients. In the Graves’ disease patients, altered DNA methylation profile and modified age prediction accuracy were noted for TRIM59 and FHL2 with aberrant hypermethylation observed for the former and aberrant hypomethylation for the latter. Our work emphasizes high utility of the ELOVL2 and C1orf132 markers for prediction of chronological age in forensics by showing unchanged prediction accuracy in individuals affected by three diseases. The study also demonstrates that artificial neural networks could be a convenient alternative for the forensic predictive DNA analyses.

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The −22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer’s disease in Poland

Cited by 8 publications

References 14 publications

PIN1 gene variants in Alzheimer's disease

PIN1 gene variants in Alzheimer's disease

Current awareness in geriatric psychiatry

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups

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