Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis

Genes, Год журнала: 2025, Номер 16(3), С. 281 - 281

Опубликована: Фев. 26, 2025

Background/Objectives: Symptoms of pudendal nerve neuropathy may overlap with various symptoms interstitial cystitis (IC). As documented, there is a well-established correlation between the genes involved in ATP metabolism, neuropathy, and IC. ATP-binding cassette (ABC) transporters genes, fact, are vital for signaling. This study aims to associate ABCF2 gene suspected Methods: Histological analysis was conducted diagnosing IC while genetic variant identified by whole exome sequencing (WES) Trio confirmed through Sanger. Results: We report patient IC, histological examination, presenting bladder though not analytically confirmed. revealed urothelial detachment caused dense subepithelial lymphocytic infiltrate, predominantly composed mast cells, which serve as key diagnostic markers WES heterozygous c.1253T>G p.Phe418Cys within gene, precisely its functional domain actively operates hydrolysis energizing biological systems. reported, this displays high expression patterns tissue. The variant, absent healthy brother, inherited from father presents mosaicism. silico prediction analyses classified pathogenic, identifying potential alterations protein structure. Conclusions: Although precise role should be supported further studies, we hypothesize that disruption might impair likely altering nociceptive response leading patient’s neuropathy. Further imperative validate research, laying groundwork specific therapy targeting dysregulation condition.

Язык: Английский

Comparative Transcriptome Profiling of Ileal and Cecal Tissues Between Pekin Ducks and Shaoxing Ducks

Genes, Год журнала: 2025, Номер 16(5), С. 488 - 488

Опубликована: Апрель 25, 2025

Background: Pekin ducks are well-known meat-type ducks, whereas Shaoxing bred for their egg-laying abilities. Growth and development of poultry species is well studied; however, very little known regarding differences in intestinal gene expression between ducks. Methods: To investigate we conducted transcriptome analysis on ileal cecal tissues from five 42-day-old per breed, raised under identical housing feeding conditions to minimize environmental influences. Results: The results showed that a total 379 differentially expressed genes (DEGs) with p < 0.05 |log2FoldChange| > 1 were identified the ileum when compared among which 158 upregulated 221 downregulated. Compared 367 DEGs ceca 204 163 Among these DEGs, nine reported be associated growth metabolism, namely, P2RX6, KCNJ6, CASQ2, EHHADH, ACSBG1, ELOVL4, AIF1L, VILL, FABP1. Functional enrichment analyses using Gene Ontology (GO) Kyoto Encyclopedia Genes Genomes (KEGG) databases indicated significantly involved pathways such as calcium signaling, unsaturated fatty acid biosynthesis, degradation, tryptophan metabolism. Conclusions: In conclusion, our study intestines laying-type offering insights into genetic basis metabolic differences. Future studies should validate key explore influences expression.

Язык: Английский

From Childhood Woes to Adult Blues: Unmasking the Role of Early Traumas, P2X7 Receptor, and Neuroinflammation in Anxiety and Depression

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(10), С. 4687 - 4687

Опубликована: Май 14, 2025

Early-life stress may increase the risk of neuropsychiatric disorders via immune activation. While purinergic signaling pathway is implicated in psychiatric disorders, specific role P2X7 receptor (P2X7R) anxiety, depression, and childhood trauma still requires further clarification. Upon chronic stress, excessive ATP release activates P2X7R signalling brain contributing to long-lasting neuroinflammation, which potentially promotes development disorders. There also a putative link between gene, located on chromosome 12q24, anxiety depression. This review aims systematically examine how contributes pathophysiology depressive with particular focus early-life (ELS). It offers comprehensive synthesis current findings, emphasizing previously unexplored intersections signaling, These interactions shape long-term offer new insights into potential therapeutic targets. The integrates regarding both indirect mechanisms-such as modulation transmission neuroinflammation following environmental stressors vulnerability-and direct genetic associations conditions, including influence single-nucleotide polymorphisms (SNPs), haplotypes, other variants within gene. Special emphasis placed impact drawing primarily preclinical findings elucidate underlying mechanisms.

Язык: Английский