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Review
. 2024 Sep 21;25(18):10148.
doi: 10.3390/ijms251810148.

Focus on Achalasia in the Omics Era

Anna Laura Pia Di Brina  1 , Orazio Palmieri  1 , Anna Lucia Cannarozzi  1 , Francesca Tavano  1 , Maria Guerra  1 , Fabrizio Bossa  1 , Marco Gentile  1 , Antonio Merla  1 , Giuseppe Biscaglia  1 , Antonello Cuttitta  2 , Francesco Perri  1 , Anna Latiano  1
Affiliations
Review

Focus on Achalasia in the Omics Era

Anna Laura Pia Di Brina et al. Int J Mol Sci. .

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.

Keywords: achalasia; genomics; microbiomics; omics; proteomics; transcriptomics; viromics.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Combining various types of omics data for a more comprehensive study of achalasia.
Figure 2
Figure 2
Flowchart of the selection of the literature evaluated in this review.
Figure 3
Figure 3
Achalasia data analysis and integration: combination of omics, including genomics, transcriptomics, metagenomics, viromics and proteomics data for possible future developments.
See this image and copyright information in PMC

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