Vitamina E e outros antioxidantes na síndrome de Down para pacientes com demência: evidências iniciais com foco em marcadores genéticos
Nascimento Silva, Marina Silva Nassif, Lívia Guerra, Augusto
Nascimento Silva, Marina
Silva Nassif, Lívia
Guerra, Augusto
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Epidemiology
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Journal article
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http://creativecommons.org/licenses/by/4.0/
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English
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Introduction: Down syndrome is caused by trisomy of chromosome 21. Individuals with DS present with premature aging and a higher risk of Alzheimer's disease (AD). Recent studies have identified 63 genes and 42 genetic markers associated with neuroinflammation in individuals with DS, highlighting the overexpression of triplicated genes such as SOD1, APP, S100B, and TREM2. These results indicate that interventions with antioxidants, such as vitamin E, may play a relevant role in modulating these pathological mechanisms. However, the clinical implications of using these compounds in this population are uncertain. Objective: To review the available evidence on the use of vitamin E and other antioxidants in people with DS and dementia, with emphasis on the effects on oxidative stress and neurodegeneration, and to identify future perspectives in the use of these therapies based on genetic markers. Methods: An initial narrative review of the scientific literature was conducted using PubMed and Embase databases, employing the descriptors: “antioxidants”, “vitamin E”, “Down syndrome”, “dementia”, “oxidative stress”, “SOD1”, “genetics”, “pharmacogenomics”. Original articles and reviews addressing antioxidant interventions in people with Down syndrome and dementia were included. The review was guided by three guiding questions: which antioxidants have been studied in people with Down syndrome and dementia; what evidence exists on the effects of vitamin E on processes associated with oxidative stress and neurodegeneration in Down syndrome; and what are the main gaps and future perspectives involving pharmacogenomics-based therapies for this population. Results: Experimental and clinical studies exploring the use of vitamin E, vitamin C, and alpha-lipoic acid as antioxidant agents in people with Down syndrome were identified. Vitamin E was the most investigated compound, with data suggesting beneficial effects in reducing biomarkers of oxidative stress and possibly slowing cognitive decline. However, the results of clinical studies show discrepancies among themselves, in addition to methodological limitations, small sample sizes, and variability in the definition of outcomes. There is a scarcity of robust randomized clinical trials for these compounds and an almost complete lack of approaches that stratify participants based on genetic profiles, such as the status of genes related to the neuroinflammatory process. Conclusions:The use of vitamin E is a promising alternative for the treatment of dementia in the Down syndrome population. However, the data are still preliminary, and studies integrating gene expression variability into the analysis of the efficacy and safety of these interventions are lacking. The results of this initial review indicate the need for more comprehensive studies and suggest the potential of pharmacogenomics as a future tool for therapeutic personalization in this population.
Citation
M. Nascimento Silva, L. Silva Nassif, A. Guerra, "Vitamina E e outros antioxidantes na síndrome de Down para pacientes com demência: evidências iniciais com foco em marcadores genéticos," Jornal de Assistência Farmacêutica e Farmacoeconomia, vol. 11, no. s1, https://doi.org/10.22563/2525-7323.2026.v11.e00332.
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Jornal de Assistência Farmacêutica e Farmacoeconomia
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Jornal de Assistencia Farmaceutica e Farmacoeconomia