Metabolomics and lipidomics in pectus excavatum: preliminary screening of biomarkers for early diagnosis.

Abstract

Pectus excavatum (PE) is the most common chest wall deformity, characterized by an insidious onset, gradual progression, and challenges in early diagnosis. It is often accompanied by emaciation and distinctive metabolic traits, which may provide valuable insights into its internal physiological and biochemical mechanisms. Our study attempted to screen out biomarkers by identifying the metabolic characteristics of PE, and the results provide a scientific basis for the early diagnosis of PE. Untargeted metabolomic and lipidomic analyses using liquid chromatography-mass spectrometry was conducted on serum samples obtained from 20 patients diagnosed with PE and 30 healthy case-controls. Principal component analysis and partial least squares discriminant analysis were employed to assess the quality of the metabolic profiling and delineate the metabolic differences between the PE and healthy cohorts. Receiver operating characteristic analysis was conducted to evaluate the predictive accuracy of the selected biomarkers. Pathway analysis of the dysregulated metabolites was utilized to elucidate the underlying pathological pathways. Fourteen metabolites and seven lipids were found to be differentially expressed between patients with PE and healthy controls. Indole-3-acetaldehyde showed potential as a biomarker for PE, with an area under the curve value of 0.94, making it effective in distinguishing patients with PE. Pathway analysis revealed enrichment of several pathological pathways, such as valine, leucine, and isoleucine biosynthesis; sphingolipid metabolism; glycine, serine, and threonine metabolism; and glycerophospholipid metabolism. In our study, we employed a multiomics approach to comprehensively examine dysregulated serological molecules in PE patients, and the analyses revealed potential biomarkers for early diagnosis and provided information for pathological studies.