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The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFCostly traits in a dynamic world: trait responses to fine-scale varying environment differ according to selection pressures in a tropical lizard.
Evolution
January 2025
Centre for Ecological Sciences, Indian Institute of Science, Bengaluru, 560012, India.
Under current climate change patterns, rapidly changing environments can impose strong selection on traits. Costly traits that require heavy investment and strongly affect fitness may be particularly vulnerable to such changes. Despite organisms experiencing dynamic environments, our knowledge of costly trait response is limited as longitudinal studies across generations are rare.
View Article and Find Full Text PDFMicrobiome metabolic capacity is buffered against phylotype losses by functional redundancy.
Appl Environ Microbiol
January 2025
Department of Microbiology, Ohio State University, Columbus, Ohio, USA.
Unlabelled: Many animals contain a species-rich and diverse gut microbiota that likely contributes to several host-supportive services that include diet processing and nutrient provisioning. Loss of microbiome taxa and their associated metabolic functions as result of perturbations may result in loss of microbiome-level services and reduction of metabolic capacity. If metabolic functions are shared by multiple taxa (i.
View Article and Find Full Text PDFGenetically predicted brain cortical structure mediates the causality between insulin resistance and cognitive impairment.
Front Endocrinol (Lausanne)
January 2025
Department of Neurology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Background: Insulin resistance is tightly related to cognition; however, the causal association between them remains a matter of debate. Our investigation aims to establish the causal relationship and direction between insulin resistance and cognition, while also quantifying the mediating role of brain cortical structure in this association.
Methods: The publicly available data sources for insulin resistance (fasting insulin, homeostasis model assessment beta-cell function and homeostasis model assessment insulin resistance, proinsulin), brain cortical structure, and cognitive phenotypes (visual memory, reaction time) were obtained from the MAGIC, ENIGMA, and UK Biobank datasets, respectively.
analysis of the effect of HCV genotype-specific polymorphisms in Core, NS3, NS5A, and NS5B proteins on T-cell epitope processing and presentation.
Front Microbiol
January 2025
Department of Biomedical Sciences, Nazarbayev University School of Medicine, Astana, Kazakhstan.
Background: HCV genotypes are 30-35% polymorphic at the nucleotide level, while subtypes within the same genotype differ by nearly 20%. Although previous studies have shown the immune escape potential of several mutations within the HCV proteins, little is known about the effect of genotype/subtype-specific gene polymorphism on T-cell immunity. Therefore, this study employed several methods to examine the impact of genotype/subtype-specific polymorphisms in Core, NS3, NS5A, and NS5B sequences on T cell epitope processing and HLA-epitope interactions.
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