Search Results (8,201)

Heart failure (HF) is frequently associated with iron deficiency and anemia, negatively impacting patient outcomes. This study aimed to investigate the contribution of genetic variation in iron metabolism-related genes to biochemical and hematological phenotypes in HF. An HF population of 182 patients with functional iron deficiency (ID) and anemia was stratified by sex and heart failure subtype, including HF with reduced ejection fraction (HFrEF) and HF with non-reduced ejection fraction (HFnrEF). Genetic variants in HFE (rs1799945), SLC40A1 (rs1439816, rs2304704), and TMPRSS6 (rs855791) were evaluated. Variants in HFE and SLC40A1 were associated with differences in serum iron, ferritin, transferrin saturation, hemoglobin, and RDW. The phenotypic impact of these variants was modulated by sex and heart failure subtype, highlighting the influence of iron availability, inflammatory burden, and erythropoietic demand. In contrast, no significant associations were observed for the TMPRSS6 variant. In conclusion, genetic variation in key regulators of iron metabolism contributes to the heterogeneity of iron-related biochemical and hematological phenotypes in HF. These findings emphasize the interplay between genetic background, sex, and heart failure physiology and support the relevance of personalized approaches to iron assessment and management in heart failure. Full article

Fruit anthocyanins are primary determinants of color, sensory quality, and nutritional value in grapes; however, their endogenous biosynthesis is governed by complex interactions among genetic, environmental, agronomic, and postharvest factors. This review elaborates recent advances in physiology and molecular biology to clarify the biosynthetic mechanisms in grapes, including the coordinated action of structural enzymes, MYB–bHLH–WD40 regulatory complexes, hormone-mediated signaling pathways, and vacuolar transport processes. Key environmental factors, such as temperature fluctuations, light exposure, water availability, and soil properties, regulate these networks, contributing to significant variation in pigmentation profiles across cultivars and growing regions. Strategic agronomic practices, including canopy management, regulated deficit irrigation, balanced nutrient management, and temperature-mitigation techniques, further influence pigmentation by modifying the microclimate of the fruit zone during development. Based on these mechanistic insights, this review evaluates targeted strategies for enhancing anthocyanin accumulation, highlighting recent progress in genetic improvement through CRISPR/Cas genome editing, transgenic approaches, and marker-assisted selection (MAS), which enable precise modulation of biosynthetic and regulatory genes. Complementary postharvest interventions, such as optimized cold storage, modified-atmosphere packaging, hormonal elicitors, and controlled oxidative technologies, provide additional opportunities to maintain or enhance pigment stability after harvest. Collectively, these advances establish a comprehensive framework linking molecular regulation with practical vineyard, breeding, and postharvest strategies, offering an integrated pathway to improve anthocyanin consistency, berry quality, and the phenolic characteristics of grape-derived products. Full article

The aim of this study was to identify SNPs in the cattle genome associated with estimated breeding values of feet (EBV_feet) in Holstein-Friesian (HF) cows in Hungary. Foot health is of major importance in dairy cattle industry whereas claw disorders are leading to lameness and thus result in low fertility rates and productivity. Genotyping was performed using the EuroG_MDv4 microarray platform. The final database comprised 2963 animals and 59,151 SNPs. EBV_feet values have been divided into high and low groups. All calculations regarding the genetic differentiation (genome-wide and locus-specific) between high- and low-value groups for EBV_feet, linear regression, and haplotype association tests have been performed with the SNP and Variation Suite software. Thirty-nine SNPs associated with EBV_feet were determined on BTAs 3, 7, 8, 15, 21, and X. The maximum values of the identified SNPs were 0.22 for F_{st_marker}, 23.1 for the −log10(p) of the linear regression, and 26.3 for the −log10(p) of the haplotype association tests on BTA 3. The closest genes to SNPs associated with estimated breeding values for feet (EBV_feet) are mainly associated with tissue structure, immune response, metabolism, growth, development, transport and signaling. Our results could add additional information to the genetic programs focusing on the improvement of foot health in HF cattle. Full article

Pre-harvest sprouting (PHS) in wheat is a significant global challenge influenced by climate. This study aimed to decipher the genetic underpinnings of PHS and identify resistance genes using 309 recombinant inbred lines (RILs) derived from the “Berkut” × “Worrakatta” cross. Methods: Phenotypic assessment of PHS traits was performed using the whole-spike sprouting method across various environments, complemented by quantitative trait loci (QTL) analysis employing a wheat 50 K SNP chip. Results showed high PHS rates in both parental lines across multiple environments. Progeny exhibited substantial variation in PHS rates, with coefficients of variation ranging from 0.16 to 0.19 and phenotypic variation ranging from 23.92% to 100%, suggesting pronounced transgressive segregation. Nine QTLs associated with PHS were identified on chromosomes 1AL, 1DL, 2AL, 2AS, 2BS, 3DS, 4BL, and 7BL. These loci accounted for 2.67% to 6.39% of the phenotypic variation. Notably, the enhancer alleles at four loci—1DL, 2BS, 4BL, and 7BL—originated from “Worrakatta”, and “Berkut” contributed the enhancer alleles at the remaining five loci. Two QTLs, QPHS.xjau-1AL.1 and QPHS.xjau-1AL.2, were stable across multiple environments. Specifically, QPHS.xjau-1AL.1 was present in three environments and explained 3.86% to 6.39% of the phenotypic variation, while QPHS.xjau-1AL.2 appeared in one environment under average conditions, explaining 2.67% to 4.87% of the variation. Our study also identified eight candidate genes associated with wheat PHS, including those encoding Myb transcription factors that influence flavonoid biosynthesis and grain color, as well as genes involved in stress response and gibberellin biosynthesis, which are crucial for plant growth and development. These genes represent vital targets for enhancing wheat PHS resistance. Full article

The remarkable ecological success of fungi is supported by their capacity for rapid and often reversible molecular responses to fluctuating environments. While conventional evolutionary theory has largely emphasized mutation and selection as central drivers of adaptation, many environmentally responsive fungal traits are also shaped by molecular processes that generate reversible phenotypic variation on ecological or developmental timescales. This review synthesizes current knowledge on reversible genetic and epigenetic mechanisms underlying fungal phenotypic plasticity by integrating insights from programmed genetic rearrangements such as mating-type switching, transposable element activity, variation in tandem repeats and the behavior of accessory chromosomes, together with dynamic epigenetic processes including histone modifications, DNA methylation, chromatin remodeling and RNA mediated regulation. Together, these mechanisms form an interconnected framework that enables rapid and, in many cases, reversible phenotypic diversification, although their consequences range from transient regulatory shifts to partially or fully irreversible sequence-level changes. We highlight the molecular machinery that governs reversibility and its evolutionary implications for fungal pathogenesis, symbiosis, and biotechnology. By uniting genetic and epigenetic perspectives, this review advances a holistic framework in which reversibility is treated as a key property of fungal phenotypic plasticity, helping fungi balance stability with flexibility under environmental challenge. Understanding these mechanisms provides new insights into fungal evolution, and opens new avenues for antifungal intervention and the rational design of industrially valuable fungal strains. Full article

Miscanthus lutarioriparius exhibits strong potential for cadmium (Cd) accumulation, making it a promising candidate for the phytoremediation of Cd-contaminated soils. However, its full remediation potential remains underexploited, highlighting the need for targeted genetic improvement This study presents a comprehensive genome-wide identification and systematic characterization of 20 Ml4CL (4-coumarate: CoA ligase genes) in the M. lutarioriparius. Results indicate that the Ml4CL gene family has undergone substantial evolutionary divergence and expansion. Phylogenetic classification is highly consistent with gene structures ad conserved motifs suggesting potential functional diversification. Promoter analysis revealed a complex cis-regulatory landscape enriched in n ABA- and light-responsive elements, frequently co-occuring with hormone-responsive elements associated with jasmonic acid (JA), gibberellins (GAs), salicylic acid (SA), and strigolactones (SLs) signaling. This pattern suggests that the Ml4CL family may function as an integrative regulatory node linking multiple stress and hormonal signaling pathways. Importantly, under Cd stress, Ml4CL genes exhibited diverse expression dynamics, including gene-specific repression and dose-dependent biphasic responses. Notably, Ml4CL4 showed strong repression, while other members displayed “induction-then-repression” or “repression-then-induction” patterns, suggesting a staged or hierarichical transcriptional response. These findings further suggest that Cd-responsive signaling networks may involve non-linear or threshold-dependent mechanismsthat activate distinct transcriptional programs depending on stress levels. Collectively, this study highlights the regulatory role of the Ml4CL family in plant adaptation to complex environments and identifies candidate dose-resonsive regulatory elements and key allelic variations. These findings provide valuable targets for molecular breeding and synthetic biology aimed at improving crop stress resilience. Full article

The biochemical diversity among tea plant (Camellia sinensis) cultivars serves as the core material basis associated with tea quality and is of great significance for the innovation of tea germplasm resources and the genetic improvement of tea varieties. Here, we systematically analyzed 16 biochemical components, 7 mineral elements, and water-soluble fluoride (WSF) in 65 tea cultivars using multivariate analysis. These cultivars were grouped into high-component, high-epigallocatechin (EGC), low-component, and balanced-quality clusters. Significant variation was observed in quality-related parameters, including tea polyphenols, catechins, and amino acids and related quality indices. Mineral elements were significantly correlated with quality components, with potassium and boron showing significant correlation with the accumulation of these components. WSF content exhibited a pronounced cultivar-dependent variation, with more than 72% of cultivars containing less than 100 mg·kg⁻¹. The balanced-quality cluster exhibited broad processing adaptability, making it suitable for producing various tea types. The high-EGC cluster is ideal for developing specialty functional teas. The high-component cluster offers core parental material for breeding cultivars high in tea polyphenols and epigallocatechin gallate. This study provides a scientific basis for the screening and utilization of tea germplasm resources and the development of new, high-quality, and safe tea varieties. Full article

Blood is a key component of organisms, serving numerous functions, including metabolism, innate and humoral responses, and hemostasis. Variations in hematological parameters can indicate the presence of infectious and non-infectious diseases, chronic stress, and other pathological or physiological conditions. Complete blood count testing is common in human and veterinary medicine and, when combined with clinical examination, contributes to disease diagnosis and prognosis and the monitoring of therapeutic progression. Nevertheless, hematological analysis is not routinely performed in sheep due to the lack of case-specific reference intervals, complicating the interpretation of the results. Indeed, hematological parameters may be affected by various non-pathological (environmental, genetic, physiological) and pathological factors, and they require further understanding and relevant adjustments to be universally applicable. Therefore, the objective of this paper is to summarize the existing literature and describe how various pathological and non-pathological factors affect hematological parameters in sheep, thereby supporting their incorporation into health management practices. Full article

The aim of this work is to explore a load frequency control (LFC) strategy in micro hydro power plants (MHPPs). Using MATLAB/Simulink, we examined several variants of genetic algorithms (GAs), including Roulette, Tournament, and Uniform, which are utilized to optimize tuning proportional integral derivative (PID) parameters by addressing the problem of instability caused by load variations. The performances are compared with conventional PID methods and other advanced techniques like particle swarm optimization (PSO), adaptive neuro-fuzzy inference system (ANFIS), and artificial neural networks (ANN) algorithms for both single and dual-area MHPP systems. The results show that the GA-optimized PID controller with the roulette wheel achieves the fastest settling time of 0.3 s and the smallest undershoot of 0.015 pu in the single area. Also, optimizing GA demonstrates superior performance in the dual area, with the fastest settling times of 2.5 s for both Roulette and Uniform. In contrast, PSO is slower than GA, and conventional PID requires a much longer settling time of 19.8 s, a similar result occurring in the dual area. These findings confirm the effectiveness of the GA-optimized PID controller, especially the Roulette variant, as a reliable and fast solution for maintaining frequency stability in MHPPs. Full article

This work proposes solving the Traveling Salesman Problem by applying combined heuristic global and local search methods. The proposed method is divided into three phases: first, it evaluates an initial route and chooses the minimum value of rows in a distance matrix. The next phase seeks to improve the route’s cost globally and with a 2-opt local search method, remove the crossings, and further minimize the cost of departure. Finally, the last phase evaluates and conserves each cost using tabu search, proposing a parameter $\beta$ that describes the algorithm convergence factor. This paper assessed 29 TSPLIB instances and compared them with other algorithms: the ant colony optimization algorithm (ACO), artificial neural network (ANN), particle swarm optimization (PSO), and genetic algorithm (GA). With the proposed algorithm, results close to the optimal ones are obtained, and the proposed algorithm is assessed on 29 TSPLIB instances. Based on 30 independent runs per instance, the method achieves a mean absolute percentage error (MAPE) of 1.4484% relative to the known optima, demonstrating its accuracy. Furthermore, statistical comparisons using the coefficient of variation (CV) for runtime and the Wilcoxon signed-rank test confirm that the proposed hybrid algorithm is significantly faster than traditional ant colony optimization (T-ACO) and a new ant colony optimization algorithm (N-ACO) while maintaining competitive solution quality. Full article

The fig tree (Ficus carica L.) is one of the oldest cultivated fruit trees in the Mediterranean region and represents an important genetic resource for both traditional and emerging production systems. Despite its agronomic and economic relevance, modern fig breeding remains limited, and large-scale phenotypic evaluations across Mediterranean germplasms are still scarce. The objective of this study was to assess phenotypic diversity and identify key agronomic traits relevant for fig breeding. A total of 257 female fig genotypes conserved in germplasm banks located in Spain, Turkey, and Tunisia were used. Over two consecutive seasons (2021 and 2022), a total of 27 morphological, phenological, and pomological traits were assessed according to the International Union for the Protection of New Varieties of Plants (UPOV) descriptors for fig (TG265/1), with 23 phenotypic traits retained for statistical analyses. Linear mixed models were used to estimate marginal means and to partition genetic and environmental variance, while multivariate analyses and trait correlations were employed to explore the structure of phenotypic diversity. The germplasm exhibits remarkable variation in productive type, reproductive behaviour, harvesting date, and fruit quality traits. Harvesting date spans nearly three months. Fruit weight ranges from 11.7 to 134.5 g, total soluble solids from 9 to 39 °Brix, and maturation index values reached high levels, indicating pronounced sweetness during fruit ripening. Most genotypes showed high skin scratch resistance, absence of cracking at maturity, and medium or small ostiole size, highlighting the presence of ideotypes specifically suited for fresh market production. Heritability estimates indicate strong genetic control of key traits, such as fruit weight, fruit size, and total soluble solids, highlighting their suitability for selection in breeding programs. Stakeholder prioritisation further confirmed the relevance of fruit size, sweetness, firmness, and ostiole characteristics, helping to identify best genotypes for breeding and agronomic purposes. Overall, this study demonstrates the value of Mediterranean fig germplasm as a reservoir of valuable agronomic and commercial traits and provides a robust phenotypic framework to support future breeding, conservation, and cultivar selection strategies. Full article

Background: Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks. While pathogenic missense variants in CACNA1A, ATP1A2, and SCN1A can cause FHM or its sporadic form, they explain less than 20% of suspected hemiplegic migraine cases, suggesting the involvement of other genes or genetic variations, potentially including copy number variations (CNVs). PPRT2 gene variants including CNVs have also been implicated in hemiplegic migraine. Methods: Multiplex ligation-dependent probe amplification (MLPA) assays were used to investigate the presence of CNVs in the CACNA1A, SCN1A, ATP1A2, and PRRT2 genes in a cohort of 170 unrelated probands suspected to have FHM who had tested negative for pathogenic missense or small indel variants within these genes. Potential CNVs were subsequently confirmed using quantitative PCR. Results: In 15 patients referred for FHM genetic testing, various CNVs in the target genes were detected by MLPA and subsequently validated by quantitative PCR. CACNA1A exon duplications were identified in six patients and deletions found in two. Two patients had ATP1A2 exon deletions, while one had a duplication. For SCN1A, exon deletions were found in three patients and a duplication in one. PRRT2 exon deletions were detected in five patients, with a single nucleotide polymorphism (SNP) array confirming a deletion spanning PRRT2 and neighbouring loci including 26 genes in one of those. Three patients had CNVs in more than one FHM gene. Conclusions: Our study demonstrates the presence of CNVs in FHM genes in a subset of hemiplegic migraine cases (~9%), suggesting a likely role in the disorder and highlighting the need to explore structural variation in addition to the commonly interrogated genetic mutation points. These findings contribute to further understanding of genetic mechanisms that underlie hemiplegic migraine and may inform improved diagnostic and therapeutic strategies. Full article

Gluten allergy is linked to high risk of anaphylaxis. The relative allergenicity of glutens (alcohol-soluble gliadin and acid-soluble glutenin) from the three commercially grown wheat species (diploid Triticum monococcum, tetraploid Triticum durum, hexaploid Triticum aestivum) is unknown. A comparative gluten allergenicity map (CGAM) from these species will enable the identification of potentially hyper-/hypo-/iso-allergenic species/varieties of wheat as well as the determination of substantial equivalence of genetically engineered (GE) or other novel wheat lines. Here, using a recently described novel mouse model, we tested the hypothesis that the three different wheat species will exhibit natural variation in their gluten allergenicity. Groups of Balb/c mice were transdermally sensitized to alcohol-soluble or acid-soluble gluten extracts followed by elicitation of systemic anaphylaxis. Initial studies were performed to validate the model for glutens from the three wheat species. Both glutens from all three wheat species elicited robust specific IgE responses, as well as systemic anaphylaxis. However, comparative mapping analysis revealed differences in capacity to elicit specific IgE among the three wheat species with T. aestivum being the most potent in both gluten extracts. Hypothermic shock response analysis revealed that the three species elicited similar kinetics and intensity of anaphylaxis. Nevertheless, when analyzing mucosal mast cell response, it was revealed that the glutens from T. aestivum emerged as the most potent elicitor. Collectively, these results yield the first CGAM that may be utilized for preclinical testing of the allergenic potential of glutens from novel (e.g., GE) wheats and processed wheat products against existing wheat glutens. Full article

Avian reovirus (ARV) causes viral arthritis and leads to considerable economic losses in the poultry industry. In this study, six ARV strains of distinct genotypes (FJNP01–FJNP06) were isolated from commercial broiler farms. Through gene sequencing and pathogenicity assessment, we analyzed the genetic evolution and pathogenic characteristics of the σC, P10, σB, μB, and λC genes. Pathogenicity tests revealed that inoculation with FJNP01–FJNP06 by footpad or oral gavage induced symptoms in specific-pathogen-free (SPF) chickens, including mortality and growth retardation. Among the isolates, FJNP04 (genotype IV) showed the highest pathogenicity, causing increased mortality, weight loss, and severe lesions in the footpads and bursa of Fabricius, followed by FJNP05 and FJNP02. The pathogenicity of FJNP06 varied by inoculation route, with enhanced pathogenicity observed following oral gavage. In contrast, FJNP01 and FJNP03 demonstrated relatively low pathogenicity. Identity analysis indicated that σC and P10 were highly variable, σB was relatively conserved, while μB and λC displayed considerable divergence. Phylogenetic analysis placed FJNP01–FJNP06 into genotypes I to Ⅵ, respectively, forming six distinct branches on the σC and P10 phylogenetic trees, yet clustering more closely on the σB, μB, and λC trees. The pathogenicity of different genotypes of ARV varies, among which FJNP04 (genotype IV) exhibits the strongest pathogenicity. Genetic sequence analysis revealed that σC and P10 are highly variable, σB is relatively conserved, while μB and λC display a wide range of variation. This study provides insights into the genetic variation and pathogenic characteristics of ARV and serves as a reference for future research. Full article

Age-related macular degeneration (AMD) is a complex retinal disease influenced by genetic and metabolic factors. Genetic variants impact disease susceptibility, while alterations in amino acid and purine metabolism are involved in AMD development. This study aimed to examine the association between the COL2A1 rs1635529 polymorphism and AMD, as well as its relation to specific metabolites. The study comprised 919 participants: 261 with early AMD, 229 with exudative AMD, and 429 controls. DNA was extracted using the salting-out method, and genotyping was performed using real-time PCR. Metabolite levels were analysed with liquid chromatography–mass spectrometry. Statistical analysis was conducted using IBM SPSS Statistics 27.0. Logistic regression revealed that carriers of the GT + TT genotypes had a 1.63-fold higher risk of early AMD (p = 0.046). The T allele was also linked to a 1.67-fold elevated risk (p = 0.033). No significant associations were observed in exudative AMD. Furthermore, lower leucine levels were noted in exudative AMD patients, and inosine levels were reduced in GT genotype carriers within the early AMD group. The COL2A1 rs1635529 polymorphism showed a nominal association with early AMD, but not exudative AMD. Differences in leucine and inosine levels were observed, suggesting a potential link between genetic variation and metabolic alterations. These findings indicate possible involvement of collagen-related and metabolic pathways in early disease development; however, the results should be interpreted with caution and require validation in larger studies. Full article