Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis DOI Open Access
Antonino Musumeci, Mirella Vinci, Simone Treccarichi

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(3), P. 281 - 281

Published: Feb. 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.

Language: Английский

Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis DOI Open Access
Antonino Musumeci, Mirella Vinci, Simone Treccarichi

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(3), P. 281 - 281

Published: Feb. 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.

Language: Английский

Citations

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