TAMAYO TRUJILLO, VICTOR RAFAEL
Preferred name
TAMAYO TRUJILLO, VICTOR RAFAEL
Main Affiliation
CIGG - Centro de Investigación Genética y Genómica
Web Site
ORCID
0000-0001-9059-3281
Scopus Author ID
57194450790
46 results
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Item type:Publication, Molecular Mechanisms and Therapeutic Perspectives of Gut Microbiota, Autophagy, and Apoptosis in Cholangiocarcinoma PathophysiologyCholangiocarcinoma (CCA) is an aggressive malignancy of the biliary tract with rising global incidence and limited treatment options. Its pathogenesis involves a complex interplay of genetic mutations, epigenetic dysregulation, inflammatory signaling, and environmental influences. Emerging evidence highlights the pivotal role of the gut–liver axis and microbiota dysbiosis in shaping biliary homeostasis and disease progression. Alterations in microbial composition disrupt apoptosis and autophagy, two key processes regulating cell survival and death, thereby contributing to tumorigenesis, metastasis, and therapy resistance. Specific taxa, including Enterococcus, Escherichia coli, Pseudomonas, Bifidobacterium, and Bacillus, demonstrate strain-dependent effects, acting either as tumor promoters through genotoxic metabolites and immune evasion or as potential tumor suppressors by inducing apoptosis and immune activation. These findings underscore the context-dependent roles of microbiota in CCA biology. Importantly, microbiota modulation offers novel therapeutic opportunities. Dietary interventions such as probiotics, prebiotics, and nutritional strategies, alongside innovative microbiome-targeted therapies, hold promise for restoring microbial balance, enhancing antitumor immunity, and improving patient outcomes. This review integrates current molecular and microbiological evidence to propose the gut microbiota as both a biomarker and a therapeutic target in CCA, opening avenues for precision medicine approaches in hepatobiliary oncologyScopus© Citations 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report(Frontiers Media SA, 2023-05-12); ; ; José Luis Laso-Bayas<jats:sec><jats:title>Introduction</jats:title><jats:p>Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (<jats:italic>EYA4</jats:italic>) gene, a transcription factor related to the development and function of the inner ear. Emery–Dreifuss muscular dystrophy is a rare inherited disease characterized by atrophy and weakness of the humeroperoneal muscles, multi-joint contractures, and cardiac manifestations. It is inherited in an autosomal-dominant, X-linked, or less frequently autosomal recessive manner; one of the genes associated with EDMD is the emerin (<jats:italic>EMD)</jats:italic> gene.</jats:p></jats:sec><jats:sec><jats:title>Case description</jats:title><jats:p>A total of two Ecuadorian siblings aged 57 (Subject A) and 55 (Subject B) were diagnosed with deafness and an unspecified type of muscular dystrophy based on family history and clinical findings. Next-generation sequencing (NGS) using the TruSight Cardio and Inherited Disease kits at the Centro de Investigación Genética y Genómica CIGG, Universidad UTE, was performed. The genetic analyses showed two mutations: a stop mutation in exon 11/20 (NM_004100.4:c.940G&gt;T) of the <jats:italic>EYA4</jats:italic> gene and a missense mutation in exon 6 (NM_000117.2:c.548C&gt;G) of the <jats:italic>EMD</jats:italic> gene.</jats:p></jats:sec><jats:sec><jats:title>Discussion and conclusion</jats:title><jats:p>The <jats:italic>in silico</jats:italic> predictions described the <jats:italic>EYA4</jats:italic> variant as likely pathogenic and the <jats:italic>EMD</jats:italic> variant as a variant of uncertain significance (VUS). Moreover, an ancestry analysis was performed using 46 Ancestry Informative Insertion/Deletion Markers (AIM-InDels), and the ancestral composition of subject A was 46% African, 26.1% European, and 27.9% American Indian ancestry, whereas the ancestral composition of subject B was 41.3% African, 38.2% European, and 20.5% American Indian ancestry. The present case report describes two Ecuadorian siblings with a mainly African ancestral component, muscular dystrophy, and deafness phenotypes. Moreover, using next-generation sequencing (NGS), a mutation in the <jats:italic>EMD</jats:italic> and a novel mutation in <jats:italic>EYA4</jats:italic> genes possibly associated with the subjects' phenotype were identified and discussed.</jats:p></jats:sec>Scopus© Citations 3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The Non-Coding rs5945619 Variant at Xp11.22 and Its Putative Regulatory Effects on Nearby Genes in Ecuadorian Mestizo Women with Breast Cancer: A Case Series and In Silico Cis-eQTL Analysis(MDPI AG, 2026-08-07); ; ; ; Ruiz-Pozo, Viviana A. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Effect of diet on the microbiota and immune system in patients with systemic lupus erythematosus(Informa UK Limited, 2024-11-30); ; ; Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by widespread inflammation and organ damage. Studies indicate that diet significantly influences the gut microbiota, which, in turn, affects the immune system. This article explores gut microbiota dysbiosis in SLE patients and potential mechanisms related to dietary interventions and immune function. It highlights specific dietary patterns, such as a high-fibre diet and the Mediterranean diet, that may modulate the diversity and activity of the gut microbiota. The interaction between altered microbiota and immune responses, including the regulation of inflammatory cytokines, intestinal barrier permeability, and autoantibody production is examined. This review highlights the importance of personalized dietary strategies to modulate the diversity and activity of the gut microbiota by enhancing the immune response and potentially mitigating disease progression.Scopus© Citations 9 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis(Medwave Estudios Limitada, 2025-08-08); ; ; This study presents a case of a 25-year-old Native American woman from Otavalo, Ecuador, diagnosed with sea-blue histiocytosis and myelodysplastic syndrome. Bone marrow aspiration revealed sea-blue histiocytes, and next-generation sequencing identified a likely pathogenic stop-gain mutation in the gene, associated with myelodysplastic syndrome. Additionally, variants of uncertain significance were found in the and genes. Ancestral analysis showed a predominantly Native American composition, suggesting a potential genetic predisposition specific to Andean communities. The report underscores the importance of understanding genetic and ancestral backgrounds in diagnosing and managing hematological disorders. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Impact of fundamental components of the Mediterranean diet on the microbiota composition in blood pressure regulation(Springer Science and Business Media LLC, 2024-05-03); ; ; ; Background: The Mediterranean diet (MedDiet) is a widely studied dietary pattern reflecting the culinary traditions of Mediterranean regions. High adherence to MedDiet correlates with reduced blood pressure and lower cardiovascular disease (CVD) incidence and mortality. Furthermore, microbiota, influenced by diet, plays a crucial role in cardiovascular health, and dysbiosis in CVD patients suggests the possible beneficial effects of microbiota modulation on blood pressure. The MedDiet, rich in fiber and polyphenols, shapes a distinct microbiota, associated with higher biodiversity and positive health effects. The review aims to describe how various Mediterranean diet components impact gut microbiota, influencing blood pressure dynamics. Main body: The MedDiet promotes gut health and blood pressure regulation through its various components. For instance, whole grains promote a healthy gut microbiota given that they act as substrates leading to the production of short-chain fatty acids (SCFAs) that can modulate the immune response, preserve gut barrier integrity, and regulate energy metabolism. Other components of the MedDiet, including olive oil, fuits, vegetables, red wine, fish, and lean proteins, have also been associated with blood pressure and gut microbiota regulation. Conclusion: The MedDiet is a dietary approach that offers several health benefits in terms of cardiovascular disease management and its associated risk factors, including hypertension. Furthermore, the intake of MedDiet components promote a favorable gut microbiota environment, which, in turn, has been shown that aids in other physiological processes like blood pressure regulation.Scopus© Citations 40 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian WomenThyroid cancer (TC) is the most common endocrine malignancy, with a rising global incidence. In Ecuador, TC rates are among the highest worldwide. Generally, fine-needle aspiration (FNA) remains the standard diagnostic tool; however, due to its limitations, alternative or complementary approaches are required. In this context, liquid biopsy, particularly circulating tumor DNA (ctDNA), offers a promising, minimally invasive option for tumor genotyping. Objective: This study evaluated the concordance between genetic variants identified in ctDNA and tumor tissue. Thirty-six women with papillary thyroid cancer were included. Tumor tissue and blood samples were collected, and DNA was extracted. Next-Generation Sequencing (NGS) using the TruSight Tumor 15 panel identified genetic variants in both ctDNA and tumor DNA. Variant pathogenicity was assessed following ACMG guidelines. Genetic ancestry was determined using Ancestry Informative Markers (AIMs). A total of 71 cancer-associated variants were detected, with 81.69% concordance between tumor DNA and ctDNA. TP53 was the most frequently mutated gene. While most pathogenic variants were found in tumor tissue, some variants appeared exclusively in ctDNA samples on specific patients, suggesting tumor heterogeneity. Ancestry analysis revealed a predominant Native American component (62.4%). Liquid biopsy demonstrates high concordance with tumor tissue analysis and holds potential as a complementary diagnostic tool for thyroid cancer. However, challenges such as low ctDNA yield and underrepresentation in genetic databases highlight the need for improved protocols and increased inclusion of admixed populations in genomic studies.Scopus© Citations 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Statins and their impact on epigenetic regulation: insights into disease(Frontiers Media SA, 2025-07-17); ; ; Scopus© Citations 7 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Tirzepatide and the gut microbiota–obesity axis: metabolic mechanisms and therapeutic perspectives(Frontiers Media SA, 2026-07-10); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk(Frontiers Media SA, 2026-01-21); ; ; ; Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of sudden cardiac death (SCD) in young adults and athletes. It exhibits marked clinical variability, which may be influenced by genetic background and environmental factors. Although MYBPC3 is the most frequently implicated gene, data from Latin American and admixed populations remain scarce. In this study, we describe three unrelated Ecuadorian patients with clinically diagnosed HCM who harbored MYBPC3 variants. Two patients carried likely pathogenic mutations (p.Glu258Lys and p.His875Profs*8), while novel missense variants (p.Ala536Pro and p.Thr274Met) were identified as variants of uncertain significance (VUS). Additional variants were detected in TTN, MYLK2, RYR1, SDHA, APOB, and JPH2, but given their classification as VUS or a lack of association with HCM, they are described only as incidental findings. An ancestry analysis revealed heterogeneous contributions of Native American, European, and African backgrounds, reflecting the admixed composition of the Ecuadorian population. This case series underscores the phenotypic heterogeneity of HCM, even among patients with MYBPC3 variants, and highlights the importance of genomic testing in underrepresented populations to improve diagnosis, family screening, and SCD risk stratification. 2026 Paz-Cruz, Guevara-Ramírez, Tamayo-Trujillo, Ruiz-Pozo, Cadena-Ullauri, Ibarra-Castillo, Laso-Bayas, Meza-Chico, Cabrera-Andrade and Zambrano.Scopus© Citations 1