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Abstract Mitochondrial genome variation is a risk factor for Parkinson’s disease, but its role in levodopa-induced dyskinesia remains incompletely understood. This study examines the mitochondrial mutation repertoire as a potential biomarker for levodopa-induced dyskinesia in patients with Parkinson’s disease. We analyzed the mitogenome using next-generation sequencing data from 42 controls and 45 people with Parkinson’s (25 without dyskinesia and 20 with dyskinesia). The mtDNA-server 2 workflow was applied for variant calling analysis. Transition and transversion rates vary during disease progression, especially in patients without levodopa-induced dyskinesia. Although the occurrence of these mutations does not follow a linear pattern, the frequency of transitions modestly increases with age. Specific coding regions (CO1, CO2, CO3, ND4, ND5, and ND6) and the regulatory region (RNR2) exhibited an enrichment of transitions and transversions in patients without dyskinesia. Additionally, we have upgraded the mtDNA-network tool (https://apps.lghm.ufpa.br/mtdna) with an integrated visual component that summarizes the mitochondrial profile in Parkinson’s disease. The study highlights dynamic shifts in the mitochondrial mutation repertoire, with clinical implications for underrepresented populations, underscoring the importance of accounting for genetic characteristics across diverse groups.

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Abstract Given the challenges posed by the 2019 coronavirus disease (COVID-19), understanding the role of the microbiota is crucial. The analysis of this microbial community in the body not only expands our understanding of health, but also provides insights into the interaction between viruses, microbiota, and the human host. In this study, we aimed to identify possible variations in bacterial diversity caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). The study involved 45 volunteers, divided into the Positive Group (PG) consisting of 14 patients and the Negative Group (NG) consisting of 31 individuals. Both groups were stratified by biological sex to ensure sample homogeneity. Samples were collected using nasopharyngeal and oropharyngeal swabs, and total DNA was extracted and stored. The V4 region of the 16S rRNA gene was sequenced, and bioinformatics tools were used to assess the composition and diversity of the respiratory microbiota. In our results, the most abundant bacterial phyla were: Firmicutes, Bacteroidetes, and Proteobacteria. There was a notable reduction in the frequency of Firmicutes in the PG, suggesting a potential compromise in the immune response to viral infection. Beta diversity analysis did not reveal significant variations between the communities of the groups. Additionally, the analysis indicated subtle changes in some taxa, such as an increase in the abundance of Neisseriaceae in patients affected by COVID-19. These findings contribute to a deeper understanding of the complex interaction between the virus, the microbiota, and the host during infection with SARS-CoV-2, highlighting the importance of the respiratory microbiota in the context of COVID-19.

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Abstract Sickle cell disease (SCD) is defined by important heterogeneity between patients, but this clinical presentation mutability is not well understood. Therefore, this immense phenotypic variability calls for research into risk factors associated with greater chance of developing stroke in a specific population at Amazon forest. This study sought to explore the relationship between genetic markers of inflammatory process and the clinical risk of stroke in people with sickle cell anemia. The authors presented 70 patients (87.5%) were classified in group 1, without a stroke clinic, and 10 patients (12.5%) in group 2, with this clinic. These groups were subdivided in relation to the Doppler examination. Detailed analysis of genetic polymorphisms in specific subgroups revealed that variants in the CYP19A1 and MDM2 genes, in the group of patients without clinical stroke, showed statistical significance, indicating a possible protective effect against the stroke phenotype. Among patients who had a stroke, the variant in the CASP8 gene was statistically significant, suggesting that some genotypes may have a greater effect on the evolution of the stroke in patients with sickle cell anemia. Future studies should seek to include more patients with complete Doppler data and explore other variables that may affect stroke risk.

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Abstract The complex interaction between nutrition, epigenetics, and epigenomics in non-communicable diseases (NCDs) such as cardiovascular diseases, obesity, type 2 diabetes mellitus (T2DM), and cancer highlights the crucial role of nutrition as an environmental factor influencing gene expression through epigenetic mechanisms such as DNA methylation, histone modifications, and regulation through non-coding RNAs (ncRNAs). The aim of this review is to explore the importance of interactions between nutrition-epigenetics interactions in the pathogenesis of NCDs and in the development of personalized prevention and treatment strategies. These nutriepigenetic and nutriepigenomic processes are fundamental for understanding the underlying molecular mechanisms of NCDs development. Diet plays a central role in modulating gene expression, and studies indicate how nutrients and bioactive compounds in food can directly affect epigenetic patterns, influencing the risk and progression of NCDs. For example, dietary effects on DNA methylation and miRNA expression have been associated with changes in susceptibility to cardiovascular diseases, obesity, and T2DM. Additionally, phytochemicals such as curcumin, genistein, quercetin, equol, among others found in certain foods can epigenetically modulate gene expression, playing a role in cancer prevention. The complexity of nutriepigenetic and nutriepigenomic systems highlights the need for a personalized approach to disease prevention and treatment. Understanding how diet influences epigenetic patterns can provide crucial insights for the development of more targeted and effective therapeutic strategies, ultimately underscoring the growing translational value of nutriepigenetics and nutriepigenomics in advancing precision medicine and informing population-level interventions, reinforcing their clinical, preventive, and societal impact in mitigating the burden of NCDs.

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Abstract Alanyl aminopeptidase (ANPEP) has been implicated in various cancers, but its specific role in gastric adenocarcinoma (GC) remains incompletely understood. This study analyzed ANPEP gene expression in gastric cancer (GC), peritumoral tissue (PTT), metaplasia (M), and normal tissue (N). Total RNA was extracted, libraries were prepared and sequenced on the Illumina NextSeq 500. Data were processed using the nf-core/rnaseq pipeline. Transcript quantifications were imported with tximport and normalized using DESeq2. Differential expression (|log₂FC| > 1; adj. p < 0.05) and Kruskal-Wallis tests identified key genes. ANPEP was significantly upregulated in GC, PTT, and M compared to normal tissue (p < 0.01), suggesting its involvement in early mucosal transformation and malignant progression. Heatmap and pathway enrichment analysis revealed upregulation of genes related to immune function and oxidative stress, indicating an immunosuppressive and apoptosis-resistant tumor microenvironment. Correlation analyses identified strong positive associations between ANPEP and genes involved in cytoskeletal remodeling, immune modulation, and metabolic regulation, suggesting that ANPEP supports both the invasive potential of tumor cells and the establishment of an immunosuppressive, therapy-resistant niche. These findings position ANPEP as a promising biomarker for early detection and a candidate for targeted therapies.

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Abstract Rhamphichthys (Gymnotiformes), a genus with uncertain taxonomy due to rarity and morphological similarity, exhibits greater diversity in the Amazon Basin. Phylogenetic analysis of COI data from specimens collected in the Amazon Basin, in Guamá River (Belém and Barcarena), Caripetuba River, and Anequara River (Abaetetuba) and deposited in the collection of the Museu Paraense Emílio Goeldi identified two major monophyletic clades within Rhamphichthys, encompassing R. pantherinus and R. rostratus. Cytogenetic analysis of 24 specimens, both with 2n=50 but differing fundamental number (FN) and karyotype formula (KF), enabled their differentiation. Although 2n=50 is likely ancestral, karyotype constitution varies among species. By combining cytogenetic and molecular data, we reclassified the previously described Rhamphichthys “marmoratus” (2n=50, FN=94, KF=44m/sm+6st/a) as R. heleios, and previous R. rostratus (2n=50, FN=92, KF=42m/sm+8st/a) as R. pantherinus. This study provides the first cytogenetic data for the real R. rostratus species and reports novel B chromosomes within the Rhamphichthyidae family.