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, Genetics, genomics, and diet interactions in obesity in the Latin American environment(Frontiers Media SA, 2022-12-01); ; ; ; <jats:p>Obesity is a chronic disease characterized by abnormal or excessive fat accumulation that could impact an individual’s health; moreover, the World Health Organization (WHO) has declared obesity a global epidemic since 1997. In Latin America, in 2016, reports indicated that 24.2% of the adult population was obese. The environmental factor or specific behaviors like dietary intake or physical activity have a vital role in the development of a condition like obesity, but the interaction of genes could contribute to that predisposition. Hence, it is vital to understand the relationship between genes and disease. Indeed, genetics in nutrition studies the genetic variations and their effect on dietary response; while genomics in nutrition studies the role of nutrients in gene expression. The present review represents a compendium of the dietary behaviors in the Latin American environment and the interactions of genes with their single nucleotide polymorphisms (SNPs) associated with obesity, including the risk allele frequencies in the Latin American population. Additionally, a bibliographical selection of several studies has been included; these studies examined the impact that dietary patterns in Latin American environments have on the expression of numerous genes involved in obesity-associated metabolic pathways.</jats:p>Scopus© Citations 26 - 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, 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, Genetic diet interactions of ACE: the increased hypertension predisposition in the Latin American population(Frontiers Media SA, 2023-10-26); ; Scopus© Citations 16 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The Molecular Mechanisms of the Relationship between Insulin Resistance and Parkinson’s Disease Pathogenesis(MDPI AG, 2023-08-15); ; ; Scopus© Citations 61 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Molecular mechanisms of semaglutide and liraglutide as a therapeutic option for obesity(Frontiers Media SA, 2024-04-29); ; ; Obesity, a chronic global health problem, is associated with an increase in various comorbidities, such as cardiovascular disease, type 2 diabetes mellitus, hypertension, and certain types of cancer. The increasing global prevalence of obesity requires research into new therapeutic strategies. Glucagon-like peptide-1 receptor agonists, specifically semaglutide and liraglutide, designed for type 2 diabetes mellitus treatment, have been explored as drugs for the treatment of obesity. This minireview describes the molecular mechanisms of semaglutide and liraglutide in different metabolic pathways, and its mechanism of action in processes such as appetite regulation, insulin secretion, glucose homeostasis, energy expenditure, and lipid metabolism. Finally, several clinical trial outcomes are described to show the safety and efficacy of these drugs in obesity management.Scopus© Citations 70 - 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