Genetic and Transcriptomic Profiles of Inflammation in Neurodegenerative Diseases: Alzheimer, Parkinson, Creutzfeldt-Jakob and Tauopathies
Open accessAbstract
Polymorphisms in certain inflammatory-related genes have been identified as putative differential risk factors of neurodegenerative diseases with abnormal protein aggregates, such as sporadic Alzheimer’s disease (AD) and sporadic Parkinson’s disease (sPD). Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick’s disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau). The studies have disclosed variable gene regulation which is: (1) disease-dependent in the frontal cortex area 8 in AD, sPD, sCJD MM1 and VV2, PiD, PSP and FTLD-tau; (2) region-dependent as seen when comparing the entorhinal cortex, orbitofrontal cortex, and frontal cortex area 8 (FC) in AD; the substantia nigra, putamen, FC, and angular gyrus in PD, as well as the FC and cerebellum in sCJD; (3) genotype-dependent as seen considering sCJD MM1 and VV2; and (4) stage-dependent as seen in AD at different stages of disease progression. These observations show that regulation of inflammation is much more complicated and diverse than currently understood, and that new therapeutic approaches must be designed in order to selectively act on specific targets in particular diseases and at different time points of disease progression.
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Interleukins such as IL-18, IL-34, IL-4, IL-10, IL-13, and others have been reported as either up- or downregulated in patient brain tissue, CSF or blood in AD and related tauopathies.
“Interleukins such as IL-18, IL-34, IL-4, IL-10 IL-13, and others have been reported as either up or downregulated in patient brain tissue, CSF or blood [92, 103, 167].”
From Glial contributions to neurodegeneration in tauopathies (2017) · cites this paper as [92]
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- Authors
- López González, I., Garcia-Esparcia, P., Llorens, F., & Ferrer, I.
- Affiliations
- Institute of Neuropathology, Bellvitge University Hospital, IDIBELL, Barcelona 08034, Spain
- Bellvitge University Hospital (ES)
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2016-02-04
- Volume
- 17
- Issue
- 2
- Pages
- 206
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC4783939
- OpenAlex
- W2256365004
- Cited by
- 101
- References
- 209
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 10 · 2023: 5 · 2022: 12 · 2021: 12 · 2020: 9 · 2019: 10 · 2018: 14 · 2017: 19 · 2016: 3
- FWCI
- 1.34
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Keywords
- neuroinflammation, neurodegenerative diseases, Alzheimer's disease, Parkinson's disease, Creutzfeldt-Jakob disease, tauopathy, Pick's disease, progressive supranuclear palsy, frontotemporal lobar degeneration, cytokines, gene expression profiling, genetic polymorphism, disease stage, therapeutic target
- MeSH terms
- Alzheimer Disease, Brain, Diagnosis, Differential, Gene Expression Regulation, Humans, Inflammation, Creutzfeldt-Jakob Syndrome, Parkinson Disease, Risk Factors, RNA, Messenger, Biomarkers, Disease Progression, Neurodegenerative Diseases, Genetic Predisposition to Disease, Tauopathies, Genetic Association Studies, Transcriptome, Protein Aggregation, Pathological
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