Mutations in Presenilin 1 (PS1) and Presenilin 2 (PS2) genes account for up to 50% of familial early-onset Alzheimer's disease (EOAD). In order to assess the genetic contribution of the PS genes in a series of Polish patients, we performed a mutational analysis in 6 autosomal dominant (ADEOAD), 8 familial and 41 sporadic EOAD cases from Poznan region. Three missense mutations in the PS1 gene (Ala246Glu in exon 7, Pro267Leu in exon 8, and Leu424Arg in exon 12) were found in patients from families with ADEOAD. In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases. The variation was also absent from other 53 patients and 48 controls. Therefore, we could not confirm the previous suggestion that the Glu318Gly substitution may be a risk factor for AD.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Modifiable risk factors for early- and late-onset dementia using the Korean national health insurance service database.
J Prev Alzheimers Dis
January 2025
Department of Neurology, National Health Insurance Service Ilsan Hospital, Goyang, South Korea. Electronic address:
Background: Early-onset dementia (EOD) and late-onset dementia (LOD) may have distinct modifiable risk-factor profiles.
Objective: To identify and compare factors associated with EOD and LOD using a nationwide cohort database.
Design: Nationwide two nested case-control studies.
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFEffect of genetic and vascular risk factors on rates of cognitive decline in early-onset and late-onset Alzheimer's disease.
J Alzheimers Dis
January 2025
Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.
Background: Although previous studies have shown that cognitive decline in Alzheimer's disease (AD) is associated with various risk factors, they primarily focused on late-onset AD (LOAD).
Objective: We aim to evaluate the differential impact of risk factors on the cognitive decline between early-onset AD (EOAD, onset < 65 years) and LOAD (onset 65 years) and explore the longitudinal effect of Apolipoprotein E allele 4 ( ε4) on cortical atrophy in both cohorts.
Methods: Using data from 212 EOAD and 1101 LOAD participants in the Alzheimer's Disease Neuroimaging Initiative (ADNI), we conducted multivariable mixed-effect models to evaluate the impact of ε4, education, hypertension, diabetes, dyslipidemia, and body mass index on cognitive performance.
Multi-omics analyses of early-onset familial Alzheimer's disease and Sanfilippo syndrome zebrafish models reveal commonalities in disease mechanisms.
Biochim Biophys Acta Mol Basis Dis
January 2025
Alzheimer's Disease Genetics Laboratory, School of Molecular and Biomedical Sciences, Faculty of Sciences, Engineering and Technology, The University of Adelaide, North Terrace Campus, Adelaide, SA 5005, Australia.
Sanfilippo syndrome (mucopolysaccharidosis type III, MPSIII) causes childhood dementia, while Alzheimer's disease is the most common type of adult-onset dementia. There is no cure for either of these diseases, and therapeutic options are extremely limited. Increasing evidence suggests commonalities in the pathogenesis of these diseases.
View Article and Find Full Text PDFImportance of Gut Microbiota Dysbiosis and Circadian Disruption-Associated Biomarkers in Emergence of Alzheimer's Disease.
Mol Neurobiol
January 2025
Department of Biological Sciences (Pharmacology and Toxicology), National Institute of Pharmaceutical Education and Research, Hyderabad, Telangana, India, 500037.
Alzheimer's disease (AD) is a major devastating neurodegenerative disorder afflicting majorly the geriatric population. Emerging studies augur the connection of gut dysbiosis and circadian disruption with the early onset of AD. Gut dysbiosis is characterized by dysregulated gut microbiota signature and compromised intestinal integrity, which provokes the translocation of bacterial metabolites into the systemic circulation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!