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Mass Spectrometry Approaches as Clinical Diagnostic/Prognostic Tools

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 July 2026 | Viewed by 21069

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Dr. Federica Iavarone

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1. Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, 20123 Rome, Italy 2. Fondazione Policlinico Universitario IRCCS “A. Gemelli”, 00168 Rome, Italy
Interests: human proteomics; metabonomics; small molecules; mass spectrometry; biomarkers
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Special Issue Information

Dear Colleagues,

The Special Issue aims is to collect contributions that underline the importance of mass spectrometry in qualitative-quantitative analysis for the identification of disease biomarkers and for the dosage of biomolecules and drugs, useful as a diagnostic and prognostic tool. The great advantage offered by this technology is given by the possibility of being able to correctly identify and quantify different endogenous and exogenous biomolecules, and generally coupled with liquid chromatography it provides a wide range of possibilities for personalized medicine.

In the clinical chemistry field, there is an increasingly greater demand for technology that serves as a reference point for various methods and which can satisfy analytical needs with adequate accuracy and precision.

Dr. Federica Iavarone
Guest Editor

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Keywords

mass spectrometry
quantitative analysis
biomarkers

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Published Papers (4 papers)

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Research

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13 pages, 2202 KB

Open AccessArticle

Differential Glycosylation Patterns in Parkinson’s Disease: Emphasis on Male-Specific Changes Identified via HILIC-LC-MS

by Béla Demeter, Adriána Kutás, Béla Viskolcz, Csaba Oláh, Edina Petercsák, Attila Garami and Csaba Váradi

Int. J. Mol. Sci. 2026, 27(1), 552; https://doi.org/10.3390/ijms27010552 - 5 Jan 2026

Viewed by 578

Abstract

Parkinson’s disease (PD) is a progressive neurodegenerative disorder primarily characterized by the degeneration of dopaminergic neurons, leading to significant motor and non-motor symptoms. This study investigates glycosylation patterns with a significant emphasis on male Parkinson’s Disease (PD) patients, revealing unique alterations distinguishing PD from healthy states, utilizing high-performance liquid chromatography coupled with mass spectrometry (HILIC-LC-MS). Findings reveal significantly altered serum N-glycosylation profiles between male and female patients, with increased levels of high-mannose glycans and reduced mono-sialylated glycans in male patients. ROC curve analysis indicates that these glycan changes are the most important features for distinguishing PD from healthy states, with AUC values of 0.71 for M5 and 0.85 for M6. This study underscores the critical role of glycosylation in the pathophysiology of Parkinson’s disease and highlights its potential in early detection and monitoring of disease progression. Full article

(This article belongs to the Special Issue Mass Spectrometry Approaches as Clinical Diagnostic/Prognostic Tools)

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21 pages, 3141 KB

Open AccessArticle

Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia

by Michela Cicchinelli, Guido Primiano, Francesca Canu, Jacopo Gervasoni, Aniello Primiano, Lavinia Santucci, Anna Percio, Viviana Greco, Chiara Leoni, Andrea Sabino, Michelangelo Ardito, Giuseppe Zampino, Serenella Servidei, Andrea Urbani and Federica Iavarone

Int. J. Mol. Sci. 2025, 26(23), 11257; https://doi.org/10.3390/ijms262311257 - 21 Nov 2025

Cited by 1 | Viewed by 785

Abstract

Advances in next-generation sequencing have significantly improved the molecular diagnosis of mitochondrial diseases (MDs), a group of heterogeneous neurogenetic disorders. However, progress in understanding their pathogenic mechanisms and translating this knowledge into effective therapies remains limited. Elucidating the molecular determinants of phenotypic variability in primary MDs is essential to uncover disease mechanisms and identify novel therapeutic targets. We investigated a cohort of eight adult patients with genetically confirmed Progressive External Ophthalmoplegia (PEO)—an extremely rare mitochondrial disorder—and compared them with eight age- and sex-matched healthy controls. A comprehensive multi-omics approach combining LC–MS/MS-based proteomics, UPLC–MS/MS-based metabolomics, ATR–FTIR spectroscopy, and chemometric multivariate analysis was employed to identify molecular alterations associated with mitochondrial dysfunction. Distinct proteomic and metabolic patterns related to energy metabolism were observed in PEO patients, correlating with their genetic background. Metabolomic analysis showed altered amino acid levels (seven statistically relevant) and disruptions in the metabolism of cysteine, methionine, and glutathione; proteomics finding (154 differentially expressed proteins) revealed dysregulation in extracellular matrix (ECM) organization and immune response pathways. This integrative analytical strategy offers new insights into the molecular complexity of PEO and mitochondrial disorders. The identification of disease-associated molecular signatures may enhance the understanding of pathogenic mechanisms and support the development of improved diagnostic and therapeutic approaches for MDs. Full article

(This article belongs to the Special Issue Mass Spectrometry Approaches as Clinical Diagnostic/Prognostic Tools)

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11 pages, 1848 KB

Open AccessArticle

Tear Sampling and Biomarker Discovery: A Robust Workflow for Routine Clinical Applications Using UHPLC-MS/MS and Schirmer Strips

by Rossana Comito, Carmen Ciavarella, Gloria Astolfi, Matteo Conti, Emanuele Porru, Francesco Saverio Violante and Piera Versura

Int. J. Mol. Sci. 2025, 26(5), 2041; https://doi.org/10.3390/ijms26052041 - 26 Feb 2025

Cited by 5 | Viewed by 2967

Abstract

Human tear analysis is gaining increasing attention as a non-invasive tool for several applications such as proteomics and biomarker identification in various diseases, including cancer. The choice of the correct sampling method determines the result of the analysis. In this study, we developed and validated a robust method for tear protein quantification using ultra-high-performance liquid chromatography coupled with tandem mass spectrometry (UHPLC-MS/MS). Tear samples were collected with Schirmer strips, a low-cost and practical tool for tear collection. It is the first time that internal standards have been used to enhance the analytical performance of a method based on Schirmer strips for tear sampling, overcoming the issues widely reported in the literature regarding protein extraction and data reproducibility. Non-human proteins were used for method development, ensuring improved accuracy and analytical precision. The method demonstrated excellent recovery, high sensitivity, and reproducibility. The use of Schirmer strips, combined with this advanced analytical method, highlights their potential as a reliable support for tear protein quantification and biomarker discovery. This study provides a cost-effective and reliable workflow for tear proteome analysis and contributes to the growing field of tear-based diagnostics, making it suitable for routine clinical and research applications in precision medicine. Full article

(This article belongs to the Special Issue Mass Spectrometry Approaches as Clinical Diagnostic/Prognostic Tools)

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Review

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19 pages, 3819 KB

Open AccessReview

Mass Spectrometry Advancements and Applications for Biomarker Discovery, Diagnostic Innovations, and Personalized Medicine

by Ahrum Son, Woojin Kim, Jongham Park, Yongho Park, Wonseok Lee, Sangwoon Lee and Hyunsoo Kim

Int. J. Mol. Sci. 2024, 25(18), 9880; https://doi.org/10.3390/ijms25189880 - 12 Sep 2024

Cited by 42 | Viewed by 16026

Abstract

Mass spectrometry (MS) has revolutionized clinical chemistry, offering unparalleled capabilities for biomolecule analysis. This review explores the growing significance of mass spectrometry (MS), particularly when coupled with liquid chromatography (LC), in identifying disease biomarkers and quantifying biomolecules for diagnostic and prognostic purposes. The unique advantages of MS in accurately identifying and quantifying diverse molecules have positioned it as a cornerstone in personalized-medicine advancement. MS-based technologies have transformed precision medicine, enabling a comprehensive understanding of disease mechanisms and patient-specific treatment responses. LC-MS has shown exceptional utility in analyzing complex biological matrices, while high-resolution MS has expanded analytical capabilities, allowing the detection of low-abundance molecules and the elucidation of complex biological pathways. The integration of MS with other techniques, such as ion mobility spectrometry, has opened new avenues for biomarker discovery and validation. As we progress toward precision medicine, MS-based technologies will be crucial in addressing the challenges of individualized patient care, driving innovations in disease diagnosis, prognosis, and treatment strategies. Full article

(This article belongs to the Special Issue Mass Spectrometry Approaches as Clinical Diagnostic/Prognostic Tools)

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