Article
Biochemistry & Molecular Biology
David Vogrinc, Milica Gregoric Kramberger, Andreja Emersic, Sasa Cucnik, Katja Goricar, Vita Dolzan
Summary: Alzheimer's disease (AD) is a common neurodegenerative disease with a complex genetic background. Genome-wide association studies (GWAS) have identified numerous AD risk loci. This study aims to assess the associations between SNPs in well-established GWAS AD risk loci and CSF biomarker levels or cognitive test results in Slovenian patients with cognitive decline.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Chen-Yang He, Zuo-Teng Wang, Ying-Ying Shen, An-Yu Shi, Hui-Yun Li, Dong-Wan Chen, Gui-Hua Zeng, Cheng-Rong Tan, Jin-Tai Yu, Fan Zeng, Yan-Jiang Wang
Summary: This study analyzed the relationship between NGFR gene polymorphism and the risk of Alzheimer's disease (AD) in the Chinese Han population and the association of a tag-SNP (rs2072446) with amyloid-beta deposition in the ADNI cohort.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Biochemistry & Molecular Biology
Antonela Blazekovic, Kristina Gotovacjercic, Fran Borovecki
Summary: The study aimed to assess differences in 3'UTR variants of the SNCA gene in a cohort of PD patients and control subjects from Croatia, identifying a significantly higher occurrence of a particular variant in the PD population which has not been reported previously. Further research is needed to explore the role of these variants in PD development and their impact on disease pathology.
Article
Biology
Agata Ocenasova, Ivana Shawkatova, Juraj Javor, Zuzana Parnicka, Gabriel Minarik, Maria Kralova, Iliana Kiralyova, Iveta Mikolaskova, Vladimira Durmanova
Summary: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive memory loss. Matrix metalloproteinases (MMPs) play a role in the disruption of the blood-brain barrier in AD patients, leading to neuroinflammation. This study investigated the association between MMP2 gene polymorphisms and AD susceptibility, as well as their interaction with the APOE epsilon 4 risk allele, age at disease onset, and MoCA score. The results showed no significant differences in MMP2 polymorphisms between AD patients and controls, but revealed a correlation between MMP2 rs243866 GG genotype and a later age at disease onset. This suggests that the MMP2 rs243866 promoter polymorphism may influence the age at onset of AD.
Article
Biochemistry & Molecular Biology
Michal Cibulka, Maria Brodnanova, Marian Grendar, Jan Necpal, Jan Benetin, Vladimir Han, Egon Kurca, Vladimir Nosal, Matej Skorvanek, Branislav Vesely, Andrea Stanclova, Zora Lasabova, Zuzana Pos, Tomas Szemes, Stanislav Stuchlik, Milan Grofik, Martin Kolisek
Summary: SLC41A1 gene SNP rs708727 is associated with an increased risk for Parkinson’s disease (PD) in the Slovak population. The genotypic triplet GG((rs708727)) + AG((rs823156)) + CC(rs61822602) might also be relevant to PD. However, the tested SNPs have limited power in discriminating between PD patients and controls, according to the RandomForest modeling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Serena Dato, Francesco De Rango, Paolina Crocco, Stefano Pallotti, Michael E. Belloy, Yann Le Guen, Michael D. Greicius, Giuseppe Passarino, Giuseppina Rose, Valerio Napolioni
Summary: Advanced age is the biggest risk factor for late-onset Alzheimer's disease (LOAD), and it shares genetic signatures with longevity. The study found evidence that pathways leading to longevity also contribute to LOAD, and identified interacting genes that are associated with survival to old age. The findings suggest that interactions of risk factors may drive different trajectories of cognitive aging.
Article
Cell Biology
Serena Dato, Francesco De Rango, Paolina Crocco, Stefano Pallotti, Michael E. Belloy, Yann Le Guen, Michael D. Greicius, Giuseppe Passarino, Giuseppina Rose, Valerio Napolioni
Summary: Advanced age is the biggest risk factor for late-onset Alzheimer's disease (LOAD), with shared genetic signatures between LOAD and longevity. Gene-gene interactions in pathways related to insulin/IGF1 signaling, DNA repair, and oxidative stress were found to affect LOAD. These findings suggest that risk factor interactions may drive different trajectories of cognitive aging.
Article
Geriatrics & Gerontology
Alexander M. Kulminski, Ian Philipp, Leonardo Shu, Irina Culminskaya
Summary: This study explores the roles of genetic variants in the APOE-TOMM40-APOC1 region in Alzheimer's disease risk, showing that carriers of certain alleles have significantly higher risk for AD.
NEUROBIOLOGY OF AGING
(2022)
Article
Neurosciences
Jennifer L. Brown, Damyan W. Hart, Gabriel E. Boyle, Taylor G. Brown, Michael LaCroix, Andres M. Baraibar, Ross Pelzel, Minwoo Kim, Mathew A. Sherman, Samuel Boes, Michelle Sung, Tracy Cole, Michael K. Lee, Alfonso Araque, Sylvain E. Lesne
Summary: This study demonstrates that the function of alpha Syn on memory differs between male and female brains in a mouse model of Alzheimer's disease. Reduction of SNCA transcripts alleviates cognitive deficits in male mice, but not in females. Transcriptional analysis identifies a differentially expressed gene network centered around EGR1, a central modulator of learning and memory, in the hippocampi of SNCA-null mice.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Clinical Neurology
Aleksandra A. Szwedo, Camilla Christina Pedersen, Anastasia Ushakova, Lars Forsgren, Ole-Bjorn Tysnes, Carl E. Counsell, Guido Alves, Johannes Lange, Angus D. Macleod, Jodi Maple-Grodem
Summary: The study showed that the rs356219 variant of SNCA may have a minor impact on modifying disease progression in patients with Parkinson's disease, while other SNCA variants were not significantly associated with differences in disease progression.
FRONTIERS IN NEUROLOGY
(2021)
Article
Neurosciences
Zuo-Teng Wang, Yan Fu, Shi-Dong Chen, Yu-Yuan Huang, Ya-Hui Ma, Yan-Jiang Wang, Lan Tan, Jin-Tai Yu
Summary: This study is the first to identify significant associations between TREM1 rs2062323 and AD risk. The rs2062323T may be involved in AD by regulating the expression of TREM1, TREML1, TREM2, and sTREM2. The TREM family is expected to be a potential therapeutic target for AD.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Cell Biology
Alexander M. Kulminski, Ethan Jain-Washburn, Elena Loiko, Yury Loika, Fan Feng, Irina Culminskaya, Alzheimer's Disease Neuroimaging Initiative Alzheimers Dis Neuroimaging Initiative
Summary: This study examined the associations of APOE alleles and polygenic profiles with cerebrospinal fluid and plasma biomarkers, revealing differential effects of specific alleles on different biomarkers.
Article
Medicine, Research & Experimental
Xiao-He Hou, John Suckling, Xue-Ning Shen, Yong Liu, Chuan-Tao Zuo, Yu-Yuan Huang, Hong-Qi Li, Hui-Fu Wang, Chen-Chen Tan, Mei Cui, Qiang Dong, Lan Tan, Jin-Tai Yu
Summary: This study aims to develop risk models for predicting individual-level onset of AD using optimal predictors from multiple features, in order to achieve early prevention of AD.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
David Vogrinc, Milica Gregoric Kramberger, Andreja Emersic, Sasa Cucnik, Katja Goricar, Vita Dolzan
Summary: Oxidative stress and neuroinflammation are important processes involved in Alzheimer's disease and mild cognitive impairment. This study evaluated the association of polymorphisms in oxidative stress- and inflammation-related genes with cerebrospinal fluid biomarker levels and cognitive test results. The results showed that IL1B rs16944 carriers had higher CSF A beta(1-42) levels, while NFE2L2 rs35652124 carriers had lower CSF A beta(1-42) levels. Several gene variants, including CAT rs1001179, GSTP1 rs1138272, KEAP1 rs1048290 and rs9676881, and NFE2L2 rs35652124, were significantly associated with cognitive test scores.
Article
Biochemistry & Molecular Biology
Sabeen A. Kazmi, Elaine Y. Hsiao
Summary: A study in Science shows that reducing gut bacteria in mice with genetic risk for AD can reduce neuropathology, but this effect is sex-dependent. This effect can be reversed by administering short-chain fatty acids, suggesting that specific bacterial metabolites increase susceptibility to AD.