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Biology subjects

Martinez-Cadenas, C.

Publications and source records attributed to Martinez-Cadenas, C..

3 recordsLinked to original sources

A prospective multi-cohort study identifies reproducible molecular responses to musical stimulation in the human tear proteome

Music elicits complex emotional, cognitive, and physiological responses, yet the molecular mechanisms underlying these effects remain poorly understood. Tear fluid is an accessible biofluid that reflects both systemic and local physiology, providing a unique opportunity to investigate the biological effects of musical stimulation. Quantitative mass spectrometry-based proteomics was performed on paired tear samples (n = 336) collected before and after exposure to a standardized musical stimulus in two independent cohorts of healthy participants, including both music-stimulated and music-unstimulated individuals. Integrative analyses, including differential expression, functional enrichment, co-expression network, correlation, and machine-learning approaches, identified reproducible molecular responses across cohorts. Fourteen proteins, including PRTN3, LEG3, CATD, IGHG2, and ZA2G, remained significant after multiple-testing correction and showed concordant regulation in the stimulated cohorts but not in controls. Functional enrichment converged on innate immune, inflammatory, host-defense, and extracellular signaling pathways, and consensus network analysis identified reproducible immune-related modules. The 14-protein signature robustly discriminated pre- and post-stimulation samples, with no effect detected in the unstimulated control groups. These findings support tear proteomics as a promising non-invasive approach for investigating the molecular basis of auditory and emotional experiences.

molecular biology↗

Whole-genome sequencing in Galicia reveals male-biased pre-Islamic North African ancestry, subtle population structure, and micro-geographic patterns of disease risk

Galicia, located at the westernmost edge of Europe, has been reported to exhibit distinctive genetic traits compared to other Iberian populations. We present the first whole-genome sequencing (WGS) study of a Galician population (GALOMICS [GAL]; n = 91, 17.2 million variants; https://galomica.genpob.eu/), assessing its genetic variability in comparison with WGS data from other Spanish regions and continental populations (n = 1,078). Contrary to recent claims of extreme genetic stratification, the population structure of Galicia aligns with broader Iberian patterns, with one dominant cluster homogeneously distributed and four minor, more localized clusters. Genome-wide analyses of the Spanish National DNA Bank dataset (NDNAB; n = 453) support these findings, identifying only three Galician clusters, again with one overwhelmingly predominant. Phylogenetic analyses challenge earlier interpretations that placed Galicians at the deepest Iberian genetic node; instead, Galician clusters form terminal branches, suggesting recent diversification. Analysis of runs of homozygosity indicates slightly higher inbreeding compared to other European populations, primarily driven by the Porto do Son cluster, which raises the regional average. We identified a significant North African/Middle Eastern autosomal ancestry component (13.5%-16.5%), despite its distance from historically Arab-influenced regions. Genomic analyses point to an admixture event ca. 620-670 CE that introduced North African/Middle Eastern ancestry into a largely European gene pool. The signal, likely stemming from trans-Mediterranean contacts predating the 711 CE Islamic incursion and well before the Reconquista, shows a subtle South-to-North decline, suggesting a southern entry route. Y-chromosome (21.2%) and mitochondrial DNA (1.1%) analyses indicate a male-biased influx, pointing to a predominantly paternal contribution. This observation calls for a reevaluation of the commonly held assumption that Islamic rule alone accounts for North African ancestry in Iberia. Analysis of polygenic risk scores for common diseases (including breast and ovarian cancer, Alzheimers, schizophrenia, and type 2 diabetes) reveals distinct micro-geographical patterns of disease risk in the region, stratified by genetic clusters. These insights highlight the importance of further research into implications for public health policy.

genomics↗

Clinical and Genetic Determinants of Glioblastoma Multiforme Survival: A Retrospective Analysis

Glioblastoma, the most aggressive primary brain tumour in adults, has a poor prognosis and limited survival despite advances in treatment. This study analysed 61 patients with glioblastoma multiforme treated at the General University Hospital of Castellon, Spain, focusing on clinical, tumour-specific and genetic factors influencing disease outcome. Variables included age, sex, BMI, extent of surgical resection, and use of radiotherapy or chemotherapy. Tumour characteristics assessed included location, size, proximity to the ventricular system and surgical approach. Genetic mutations in the IDH, EGFR, TP53 and CDKN2A genes were also analysed. Kaplan-Meier analysis was used to assess the impact of these factors on overall survival and progression-free survival. A significant finding was the strong association between surgical approach, tumour proximity to the ventricular system and survival: patients with tumours closer to the ventricles had significantly shorter survival, highlighting the critical role of spatial tumour characteristics in glioblastoma multiforme outcomes. These results suggest that integrating clinical, genetic and spatial tumour data into personalised treatment approaches could improve prognosis. Understanding these factors is critical to developing more effective strategies to meet the challenges of this aggressive and complex disease.

cancer biology↗