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聚焦于组学时代的贲门失弛缓症。

Focus on Achalasia in the Omics Era.

机构信息

Division of Gastroenterology and Endoscopy, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.

Unit of Thoracic Surgery, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.

出版信息

Int J Mol Sci. 2024 Sep 21;25(18):10148. doi: 10.3390/ijms251810148.

Abstract

Achalasia is a rare and complex esophageal disease of unknown etiology characterized by difficulty in swallowing due to the lack of opening of the lower esophageal sphincter and the absence of esophageal peristalsis. Recent advancements in technology for analyzing DNA, RNA and biomolecules in high-throughput techniques are offering new opportunities to better understand the etiology and the pathogenetic mechanisms underlying achalasia. Through this narrative review of the scientific literature, we aim to provide a comprehensive assessment of the state-of-the-art knowledge on omics of achalasia, with particular attention to those considered relevant to the pathogenesis of the disease. The notion and importance of the multi-omics approach, its limitations and future directions are also introduced, and it is highlighted how the integration of single omics data will lead to new insights into the development of achalasia and offer clinical tools which will allow early diagnosis and better patient management.

摘要

贲门失弛缓症是一种罕见且复杂的食管疾病,病因不明,其特征是由于下食管括约肌无法打开和食管蠕动缺失而导致吞咽困难。目前,用于高通量技术中分析 DNA、RNA 和生物分子的技术取得了新的进展,为更好地了解贲门失弛缓症的病因和发病机制提供了新的机会。通过对科学文献的叙述性综述,我们旨在全面评估贲门失弛缓症组学的最新知识,特别关注那些被认为与疾病发病机制相关的知识。本文还介绍了多组学方法的概念和重要性、其局限性和未来方向,并强调了整合单一组学数据将如何为贲门失弛缓症的发展提供新的见解,并提供临床工具,从而实现早期诊断和更好的患者管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/661a/11431880/2fe5cf86ac76/ijms-25-10148-g001.jpg

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