A5049076664- Chromosomal and Genetic Variations
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Diabetes and associated disorders
- T-cell and B-cell Immunology
- MicroRNA in disease regulation
- Immune Cell Function and Interaction
- Spaceflight effects on biology
- SARS-CoV-2 and COVID-19 Research
- Circular RNAs in diseases
- Parkinson's Disease Mechanisms and Treatments
- CRISPR and Genetic Engineering
- Cancer-related molecular mechanisms research
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- Medical and Biological Ozone Research
- Histone Deacetylase Inhibitors Research
- Prion Diseases and Protein Misfolding
- Celiac Disease Research and Management
- melanin and skin pigmentation
- IL-33, ST2, and ILC Pathways
- Myasthenia Gravis and Thymoma
- RNA and protein synthesis mechanisms
- Bacterial Identification and Susceptibility Testing
- COVID-19 Clinical Research Studies
University of Sassari
2020-2025
National Institute of Neurological Disorders and Stroke
2024
National Institutes of Health
2024
Human endogenous retroviruses (HERVs) constitute about 8% of the human genome. The overexpression HERVs has been detected in various inflammatory disorders like neuro-inflammation and cancer. Interestingly, it reported that stress conditions facilitate HERV expression. Space travel exposes astronauts to microgravity environments (a condition), which may result activation might influence pathogenic outcomes during after space flight. This study aimed elucidate transcriptional activity three...
TAR DNA-binding protein 43 (TDP-43) proteinopathy in brain cells is the hallmark of amyotrophic lateral sclerosis (ALS) but its cause remains elusive. Asparaginase-like-1 (ASRGL1) cleaves isoaspartates, which alter folding and susceptibility to proteolysis. ASRGL1 gene harbors a copy human endogenous retrovirus HML-2, whose overexpression contributes ALS pathogenesis. Here we show that expression was diminished samples by RNA sequencing, immunohistochemistry, western blotting. TDP-43...
In this work, we observed an increased presence of antibodies (Abs) against type I interferon (IFN-I) in coronavirus disease 2019 (COVID-19) patients admitted to the intensive care unit (ICU) compared non-ICU COVID-19 and healthy control (HC) subjects. Human endogenous retrovirus W (HERV-W) can reactivate after viral infection; therefore, also investigated HERV-W envelope (HERV-W-env)-derived epitopes. A total 113 subjects (41 female 72 male subjects) were analyzed. significant difference...
Abstract Microgravity (µg) during spaceflight affects cellular and molecular functions of both human cells microbial pathogens, influencing viral replication the host immune system. This study aimed to investigate effects simulated µg on Herpes Simplex Virus-1 (HSV-1) replication, pro-inflammatory cytokine, endogenous retrovirus (HERV) activation in neuroblastoma SH-SY5Y cells. Our results show that has a negative impact HSV-1 leading significantly reduced titers lower expression levels...
Crohn’s disease (CD) is a multifactorial polygenic inflammatory bowel linked to aberrant immune response. Mycobacterium paratuberculosis (MAP) has been associated with CD; however, detecting MAP in CD tissues remains highly challenging. Recently, Human Endogenous Retroviruses (HERVs) differential gene expression reported CD, but little known about the involvement of and HERVs pathology. This study aimed characterize humoral response against HERV-K, HERV-W, antigens using an indirect ELISA...
Human endogenous retrovirus (HERV)-K env-su glycoprotein has been documented in amyotrophic lateral sclerosis (ALS), where HERV-K 19–37 antibody levels significantly correlated with clinical measures of disease severity. Herein, we investigated further the humoral and cell-mediated immune response against specific antigenic peptides derived from ALS. env expression on peripheral blood mononuclear cells (PBMCs) membrane cytokines chemokines after stimulation 109–126 were quantified patients...
A higher expression of human endogenous retroviruses (HERVs) has been associated with several malignancies, including prostate cancer, implying a possible use as diagnostic or prognostic cancer biomarker. For this reason, we examined the humoral response against different epitopes obtained from envelope protein HERV-K (HERV-K env-su19-37, env-su109-126), HERV-H (HERV-H env-su229-241, env387-399) and HERV-W (HERV-W env-su93-108, env-su248-262) in plasma patients affected by (PCa), compared to...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can cause serious illness in older adults and people with chronic underlying medical conditions; however, children young are often asymptomatic or mild symptoms. We evaluated the presence of specific antibodies (Abs) response against Human NL63 (HCoV-NL63) S protein epitopes (NL63-RBM1, NL63-RBM2_1, NL63-RBM2_2, NL63-RBM3, NL63-SPIKE541–554, NL63-DISC-like) SARS-CoV-2 (COV2-SPIKE421–434 COV2-SPIKE742–759) plasma samples...
Objectives Reactivation of HERV‐K(HML‐2) has been found in subsets individuals with amyotrophic lateral sclerosis (ALS). This study examines the antibody response against HML‐2 ALS and analyzes its clinical relevance. Methods Antibodies to envelope (env) were analyzed using a peptide array for epitope mapping by enzyme‐linked immunosorbent assay (ELISA) 242 healthy donors, 243 85 multiple (MS) individuals. Extracellular levels digital polymerase chain reaction (PCR). Results sera recognized...
Objective: The aim of this study is to investigate the association between Cathepsin B and Parkinson’s Disease (PD), with a particular focus on determining role N-acetylaspartate as potential mediator. Methods: We used summary-level data from Genome-Wide Association Studies (GWAS) for two-sample Mendelian randomization (MR) analysis, exploring (3301 cases) PD (4681 cases). A sequential two-step MR approach was applied (8148 N-acetylaspartate. Results: analysis yielded that genetically...
The human endogenous retrovirus-K (HERV-K) and TAR DNA-binding protein 43 (TDP-43) have been associated with the pathophysiology of amyotrophic lateral sclerosis (ALS). Given these findings, we investigated humoral response against HERV-K envelope surface (env-su) glycoprotein antigens TDP-43 in plasma ALS patients healthy controls (HCs). measured levels Abs different epitopes' fragments were significantly elevated patients, both long-survivor (LS) newly diagnosed (ND) compared to HCs. We...
Parkinson’s disease (PD) is a neurodegenerative disorder involving the accumulation of alpha-synuclein (α-syn)/Lewy bodies in brain and -enteric nervous system. The etiology not well understood, but bacterial viral infections may contribute to pathogenesis PD. It has been suggested that gastrointestinal (GI) complications observed PD patients arise from dysbiosis, leading curli/α-syn deposits enteric Enteric bacteria secrete curli, functional amyloid peptide involved adhesion surfaces, cell...
Systemic rheumatic diseases, including conditions such as rheumatoid arthritis, Sjögren’s syndrome, systemic sclerosis, and lupus erythematosus, represent a complex array of autoimmune disorders characterized by chronic inflammation diverse clinical manifestations. This study focuses on unraveling the genetic underpinnings these diseases examining polymorphisms in key genes related to their pathology. Utilizing comprehensive analysis, we have documented involvement variations pathogenesis...
The immune system plays a critical role in modulating cancer development and progression. Polymorphisms key genes involved responses are known to affect susceptibility cancer. Here, we analyzed 35 evaluate the association between variants of prostate risk. Thirty-five were 47 patients with 43 healthy controls using next-generation sequencing. Allelic genotype frequencies calculated both cohorts, generalized linear mixed model was applied test relationship risk nucleotide substitution. Odds...
Bisphenol A (BPA), a recognized endocrine-disrupting chemical, is used in the production of epoxy and polycarbonate resins. Since human exposure to BPA has been associated with increased cancer susceptibility, market shifted products often labeled as "BPA free" containing analogs such bisphenol F (BPF) S (BPS). However, European legislation on BPF BPS still unclear. This study analyzed effects BPA, BPF, peripheral blood mononuclear cells by using vitro micronucleus assay. Furthermore, it...
Human endogenous retroviruses (HERVs) have been thought of as silent passengers within our genomes, but their reactivation has linked with several autoimmune diseases, including type 1 diabetes (T1DM). In order to evaluate the potential role HERVs, in addition recognized HERV-W, we focused on debated HERV-K family T1DM. Therefore, performed a serological evaluation IgG antibodies against Env epitope (HERV-K Env19−37) comparison an important β-cellular autoimmunity biomarker, ZnT8, from...
ASD is a neurodevelopmental disorder of unknown aetiology but with known contribution pathogenic immune-mediated mechanisms. HERVs are associated several neuropsychiatric diseases, including ASD. We studied anti-HERV-W, -K and -H-env immune profiles in children to analyse differences between their respective mothers child/mother control pairs possible correlations severity loss adaptive abilities. Of the 84 individuals, 42 (23 19 neurotypical) paired underwent clinical neuropsychological...
The major histocompatibility complex (MHC) loci, the most polymorphic regions within human genome, encode protein complexes responsible for antigen presentation and CD4+ CD8+ cell activation. In prostate cancer (PCa), second diagnosed in male population, MHC loci undergo significant changes their expression patterns, which affect ability of immune system to attack eliminate malignant cells. purpose this study was explore genetic diversity leukocyte (HLA)-A HLA-B patients with PCa healthy...
<title>Abstract</title> Background Human Endogenous retroviruses (HERVs) constitute about 8% of the human genome. Overexpression HERVs has been detected in various inflammatory disorders like neuroinflammation and cancer. Interestingly, it reported that stress conditions facilitate expression. Space travel will expose astronauts to microgravity environments (a condition), which may result activation might influence pathogenic outcomes during after space flight. This study aimed elucidate...
Abstract Human endogenous retroviruses (HERVs) involvement in neurological diseases has been extensively documented, although the etiology of HERV reactivation remains unclear. MicroRNAs represent one potential regulatory mechanisms reactivation. We identified fourteen microRNAs predicted to bind HERV-K transcript, and subsequently analyzed for their gene expression levels alongside those HERV-K. documented an increased four patients with Parkinson’s disease compared healthy controls, which...
Previous studies have highlighted the potential role of Mycobacterium avium subspecies paratuberculosis (MAP) and human endogenous retrovirus W (HERV-W) in pathogenesis type 1 diabetes (T1DM) among Sardinian subjects. To better understand how antibody responses evolve during disease progression, a serological evaluation IgG antibodies was performed children with T1DM collected at different time-points following onset disease. It is known that anti-PI anti-insulin (IAA) autoantibodies are...