Alzheimer’s disease: diagnostics, prognostics and the road to prevention
Open accessAbstract
Alzheimer's disease (AD) presents one of the leading healthcare challenges of the 21st century, with a projected worldwide prevalence of >107 million cases by 2025. While biomarkers have been identified, which may correlate with disease progression or subtype for the purpose of disease monitoring or differential diagnosis, a biomarker for reliable prediction of late onset disease risk has not been available until now. This deficiency in reliable predictive biomarkers, coupled with the devastating nature of the disease, places AD at a high priority for focus by predictive, preventive and personalized medicine. Recent data, discovered using phylogenetic analysis, suggest that a variable length poly-T sequence polymorphism in the TOMM40 gene, adjacent to the APOE gene, is predictive of risk of AD age-of-onset when coupled with a subject's current age. This finding offers hope for reliable assignment of disease risk within a 5-7 year window, and is expected to guide enrichment of clinical trials in order to speed development of preventative medicines.
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Tomm40 has been reported to be a risk factor in Alzheimer's disease.
“Most notably, Tomm40 has been reported in several publications to be a risk factor in AD (63).”
From Functional genomic screen and network analysis reveal novel modifiers of tauopathy dissociated from tau phosphorylation (2011) · cites this paper as [63]
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Ambegaokar, S. S., & Jackson, G. R. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr432 · Cited by 113 · see citing works
- Authors
- Grossman, I., Lutz, M. W., Crenshaw, D. G., Saunders, A. M., Burns, D. K., & Roses, A. D.
- Affiliations
- Duke University (US)
- Corresponding author
- Roses, Allen D.
- Venue
- EPMA Journal
- Published
- 2010-06
- Volume
- 1
- Issue
- 2
- Pages
- 293-303
- ISSN
- 1878-5077 (ISSN-L)
- 1878-5085
- PMC
- PMC2987528
- OpenAlex
- W1977828017
- Cited by
- 37
- References
- 10
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 2 · 2018: 5 · 2015: 1 · 2014: 2 · 2013: 1 · 2012: 8
- FWCI
- 3.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The EPMA Journal (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (P30AG028377, AG028377)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- Alzheimer's disease, predictive biomarkers, TOMM40, apolipoprotein E, disease risk prediction, preventive medicine, personalized medicine, clinical trial enrichment, phylogenetic analysis
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