Biology subjects

Pischedda, S.

Publications and source records attributed to Pischedda, S..

5 recordsLinked to original sources

bioRxiv2026

Cross-species epigenomic signatures of exceptional longevity: Insights from Jonathan the Giant Tortoise and human centenarians

Can epigenomic signatures of exceptional longevity transcend species boundaries? By comparing findings from a previously published epigenomic study of Jonathan, a 194-year-old giant tortoise, based on buccal scrape and saliva samples, with the analyses of publicly available DNA methylation data from exceptionally long-lived humans based on peripheral blood mononuclear cells (PBMCs), this comparative study reveals intriguing molecular parallels across evolutionarily distant species. Human individuals aged 110+ years exhibited significantly higher global methylation entropy than those aged 60-82 years. Furthermore, 12 candidate genes displayed a distinctive promoter methylation entropy profile, with lower values at the youngest and oldest ages than in intermediate-age groups. Strikingly, these genes were enriched in telomere-related biological processes, highlighting a compelling link between epigenomic patterns and pathways implicated in aging. The correspondence between the findings in humans and previously reported observations in Jonathan suggests testable hypotheses about epigenomic signatures of exceptional longevity that may be conserved across species and extend beyond tissue-specific effects.

genomics↗

bioRxiv2025

Can music modulate gene expression involved in traumatic brain injury? An integrative transcriptomic and epigenomic proof of concept

Music-based interventions have shown promise in aiding recovery in individuals with brain damage (BD), including acquired and traumatic brain injury (ABI and TBI). To investigate the underlying molecular mechanisms, we conducted a proof-of-concept study integrating transcriptomic and epigenomic data. We compared gene expression changes driven by musical stimuli in healthy individuals exposed to music with transcriptomic data from TBI patients, identifying 154 common differentially expressed genes (DEGs) affected in TBI and impacted by music, including STK35, HNRNPA0, MT-CYB, and MT-ND2. These genes are notably involved in mitochondrial function, synaptic plasticity, and neurodegenerative processes. Epigenomic analysis revealed that 92 of these DEGs also exhibited significant differential methylation in TBI samples, particularly in genes associated with neurodevelopment, neuroinflammation, and mood regulation. Pathway enrichment and cross-validation in independent datasets of TBI patients highlighted the cGMP- PKG signaling pathway, a key regulator of memory and plasticity. Co-expression network analysis further revealed six gene modules significantly associated with TBI, including modules centered on TXNIP and ALG13, genes previously implicated in neuroinflammation and epilepsy, two conditions commonly associated with TBI. Interestingly, several hub genes from these modules also showed sensitivity to musical stimuli, suggesting that music may target biologically relevant networks involved in TBI pathology. These findings provide preliminary evidence that music exposure may modulate gene expression and methylation in ways that support neural repair and functional recovery. This molecular insight reinforces the potential of music as a biologically grounded component of neurorehabilitation. Future studies should directly assess transcriptomic and epigenomic responses to music-based interventions in BD patients.

genomics↗

bioRxiv2024

Music elicits different gene expression responses in the buccal cavity of age-related cognitive disorders patients and healthy controls

Recent evidence suggests that external stimuli can shape transcriptomes (sensogenomics). Specifically, the analysis of capillary blood samples has shown that musical stimuli can modulate gene expression patterns, in healthy individuals but also in those with age-related cognitive disorders (ACD), based on. Here, we present groundbreaking evidence indicating that brief exposure to music can also impact the salivary transcriptome in both healthy donors and ACD patients. Our findings reveal that music has a more pronounced effect on patients compared to controls, inducing global gene expression changes towards upregulation in ACD patients but downregulation in controls. The most significantly dysregulated genes in ACD patients include LGALS3 (downregulated) and CXCL8 (upregulated), whereas in controls, THOP1 was the top significant gene (downregulated). These genes play important roles in normal brain functions and are also altered in neurodegenerative conditions. Weighted Gene Co-expression Network Analysis reveals relevant and significant modules, both positive and negative correlated with music, implicated in neurodegenerative (e.g. autophagy) and immunological processes (e.g. IL-1, MHC). This sheds light on the complex interplay between music and molecular responses in the human body. This study underscores the potential of musical stimuli to influence gene expression patterns outside of systemic circulation, paving the way for further exploration of musics therapeutic effects. Sensogenomics Working GroupAntonio Salas Ellacuriaga - PI; Federico Martinon-Torres - PI; Laura Navarro Ramon - Coordinator GenPoB/GenVip - Instituto de Investigacion Sanitaria (IDIS) (alphabetic order)Alba Camino Mera, Albert Padin Villar, Alberto Gomez Carballa, Alejandro Perez Lopez, Alicia Carballal Fernandez, Ana Cotovad Bellas, Ana Isabel Dacosta Urbieta, Narmeen Mallah, Ana Maria Pastoriza Mourelle, Ana Maria Senin Ferreiro, Andres Muy Perez, Antia Rivas Oural, Antonio Justicia Grande, Antonio Pineiro Garcia, Anxela Cristina Delgado Garcia, Belen Mosquera Perez, Blanca Diaz Esteban, Carlos Duran Suarez, Carmen Curros Novo, Carmen Gomez Vieites, Carmen Rodriguez-Tenreiro Sanchez, Celia Varela Pajaro, Claudia Navarro Gonzalo, Cristina Seren Trasorras, Cristina Talavero Gonzalez, Eines Monteagudo Vilavedra, Estefania Rey Campos, Esther Montero Campos, Fernando Alvez Gonzalez, Fernando Caamano Vinas, Francisco Garcia Iglesias, Gloria Viz Rodriguez, Hugo Alberto Tovar Velasco, Irene Alvarez Rodriguez, Irene Garcia Zuazola, Irene Rivero Calle, Iria Afonso Carrasco, Isabel Ferreiros Vidal, Isabel Lista Garcia, Isabel Rego Lijo, Ivan Prieto Gomez, Ivan Quintana Cepedal, Jacobo Pardo Seco, Jesus Eiris Punal, Jose Gomez Rial, Jose Manuel Fernandez Garcia, Jose Maria Martinon Martinez, Julia Cela Mosquera, Julia Garcia Curras, Julian Montoto Louzao, Lara Martinez Martinez, Laura Navarro Marron, Lidia Pineiro Rodriguez, Lorenzo Redondo Collazo, Lua Castelo Martinez, Lucia Company Arciniegas, Luis Crego Rodriguez, Luisa Garcia Vicente, Manuel Vazquez Donsion, Maria Dolores Martinez Garcia, Maria Elena Gamborino Carames, Maria Elena Sobrino Fernandez, Maria Jose Curras Tuala, Maria Martinez Leis, Maria Soledad Vilas Iglesias, Maria Sol Rodriguez Calvo, Maria Teresa Autran Garcia, Marina Casas Perez, Marta Aldonza Torres, Marta Bouzon Alejandro, Marta Lendoiro Fuentes, Miriam Ben Garcia, Miriam Cebey Lopez, Montserrat Lopez Franco, Nour El Zahraa Mallah, Narmeen Mallah, Natalia Garcia Sanchez, Natalia Vieito Perez, Patricia Regueiro Casuso, Ricardo Suarez Camacho, Rita Garcia Fernandez, Rita Varela Estevez, Rosaura Picans Leis, Ruth Barral Arca, Sandra Carnota Antonio, Sandra Viz Lasheras, Sara Pischedda, Sara Rey Vazquez, Sonia Marcos Alonso, Sonia Seren Fernandez, Susana Rey Garcia, Vanesa Alvarez Iglesias, Victoria Redondo Cervantes, Vanesa Alvarez Iglesias, Wiktor Dominik Nowak, Xabier Bello Paderne, Xabier Mazaira Lopez Nursing volunteers (alphabetic order)Alejandra Fernandez Mendez, Ana Isabel Abadin Campana, Ana Maria Leon Caamano, Ana Maria Buide Illobre, Angeles Mera Cores, Carmen Nieves Vastro, Carolina Suarez Crego, Concepcion Rey Iglesias, Cristina Candal Regueira, Dolores Barreiro Puente, Elvira Rodriguez Rodriguez, Eugenia Gonzalez Budino, Eva Rey Alvarez, Fernando Rodriguez Gerpe, Gemma Albela Silva, Isabel Castro Perez, Isabel Dominguez Rios, Jose Angel Fernandez de la Iglesia, Jose Cruces Vazquez, Jose Luis Cambeiro Quintela, Jose Ramon Magarinos Iglesias, Julia Rey Brandariz, Julio Abel Fernandez Lopez, Luisa Garcia Vicente, Manuel Gonzalez Lito, Manuel Gonzalez Lijo, Manuela Perez Rivas, Margarita Turnes Paredes, Maria Aurora Mendez Lopez, Maria Begona Tome Arufe, Maria Campos Torres, Maria del Carmen Baloira Nogueira, Maria del Carmen Garcia juan, Maria Esther Moricosa Garcia, Maria Luz Chao Jarel, Maria Martinez Leis, Maria Mercedes Jimenez Santos, Maria Salome Buide Illobre, Maria Victoria Lopez Pereira, Mercedes Jorge Gonzalez, Mercedes Isolina Rodriguez Rodriguez, Miren Payo Puente, Natalia Carter Dominguez, Olga Maria Reyes Gonzalez, Pilar Mera Rodriguez, Purificacion Sebio Brandariz, Salome Quintans lago, Yolanda Rodriguez Taboada, Maria Pereira Grau. Other volunteers (alphabetic order)Alba Arias Gomez, Alejandro Moreno Diaz, Ana Arca Maran, Astro Gonzalez Guirado, Brais Garcia Iglesias, Carlos Sanchez Rubin, Carmen Otero de Andres, Clara Perez Errazquin Barrera, Claudia Rey Posse, Cristina Rojas Garcia, Eduardo Xavier Gimenez Bargiela, Elena Gloria Morales Garcia, Fabio Izquierdo Garcia Escribano, Gabriel Guisande Garcia, Jaime Lopez Martin, Lara Pais Ramiro, Lucia Rico Montero, Luis Estevez Martinez, Manuel Estevez Casal, Maria Aranzazu Palomino Cano, Maria Rubio Valdes, Marisol Nogales Benitez, Miryam Tilve Perez, Nuria Villar Muinos, Pablo Del Cerro Rodriguez, Pablo Pozuelo Martinez Cardenoso, Salma Ouahabi El Ouahabi, Santiago Vazquez Calvache

genomics↗

bioRxiv2023

Tuning gene expression to music: the compensatory effect of music on age-related cognitive disorders

Extensive literature has explored the beneficial effects of music in age-related cognitive disorders (ACD), but limited knowledge exists regarding its impact on gene expression. We analyzed transcriptomes of ACD patients and healthy controls, pre-post a music session (n=60), and main genes/pathways were compared to those dysregulated in mild cognitive impairment (MCI) and Alzheimers disease (AD) as revealed by a multi-cohort study (n=1269 MCI/AD and controls). Music was associated with 2.3 times more whole-genome gene expression, particularly on neurodegeneration-related genes, in ACD than controls. Co-expressed gene-modules and pathways analysis demonstrated that music impacted autophagy, vesicle and endosome organization, biological processes commonly dysregulated in MCI/AD. Notably, the data indicated a strong negative correlation between musically-modified genes/pathways in ACD and those dysregulated in MCI/AD. These findings highlight the compensatory effect of music on genes/biological processes affected in MCI/AD, providing insights into the molecular mechanisms underlying the benefits of music on these disorders.

genomics↗

bioRxiv2021

A multi-tissue study of immune gene expression profiling highlights the key role of the nasal epithelium in COVID-19 severity

BackgroundCOVID-19 symptoms range from mild to severe illness; the cause for this differential response to infection remains unknown. Unravelling the immune mechanisms acting at different levels of the colonization process might be key to understand these differences. Methods and findingsWe carried out a multi-tissue (nasal, buccal and blood; n = 156) gene expression analysis of immune-related genes from patients affected by different COVID-19 severities, and healthy controls through the nCounter technology. We then used a differential expression approach and pathways analysis to detect tissue specific immune severity signals in COVID-19 patients. Mild and asymptomatic cases showed a powerful innate antiviral response in nasal epithelium, characterized by activation of interferon (IFN) pathway and downstream cascades, successfully controlling the infection at local level. In contrast, weak macrophage/monocyte driven innate antiviral response and lack of IFN signalling activity were shown in severe cases. Consequently, oral mucosa from severe patients showed signals of viral activity, cell arresting and viral dissemination to the lower respiratory tract, which ultimately could explain the exacerbated innate immune response and impaired adaptative immune responses observed at systemic level. Results from saliva transcriptome suggest that the buccal cavity might play a key role in SARS-CoV-2 infection and dissemination in patients with worse prognosis. ConclusionsWe found severity-related signatures in patient tissues mainly represented by genes involved in the innate immune system and cytokine/chemokine signalling. Local immune response could be key to determine the course of the systemic response and thus COVID-19 severity. Our findings provide a framework to investigate severity host gene biomarkers and pathways that might be relevant to diagnosis, prognosis, and therapy.

genomics↗