Current Standards and Perspectives in Proteomics for Cardiac Amyloidosis

Amyloidosis is a heterogeneous group of protein misfolding disorders characterized by the deposition of amyloid fibrils in tissues, which causes progressive organ dysfunction. Among the various forms, cardiac involvement by transthyretin (ATTR) and immunoglobulin light chain (AL) amyloidosis is particularly significant, as it is the main determinant of prognosis and treatment. In clinical practice, tissue biopsy remains crucial for diagnosing amyloidosis. Amyloid histological typing can be performed using antibody-based methods such as immunohistochemistry and immunoelectron microscopy. Mass spectrometry-based bottom-up proteomics has emerged as a powerful alternative, offering precise identification and quantification of amyloidogenic proteins. Despite being regarded as an effective technique for amyloid typing, the application of proteomics remains limited to specialized centers due to its technical complexity and lack of standardization in clinical workflows. This paper describes the current use of proteomics in patients with cardiac amyloidosis, based on the experience of referral centers in the USA and Europe, to provide guidance on improving the technique's reliability and to identify standard practices, challenges, and gaps in the clinical application of amyloidosis typing.

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Journal
Analytical Chemistry
Published
2026-03-04
DOI
https://doi.org/10.1021/acs.analchem.5c06139
Primary Topic
Amyloidosis: Diagnosis, Treatment, Outcomes
Type
article
Field-Weighted Citation Impact
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article

Current Standards and Perspectives in Proteomics for Cardiac Amyloidosis

Yu Fu Ferrari Chen, Francesco Greco, Diana Canetti, Ahmad Munir Masri et al.
Analytical Chemistry
Amyloidosis: Diagnosis, Treatment, Outcomes
article

Current Standards and Perspectives in Proteomics for Cardiac Amyloidosis

Yu Fu Ferrari Chen, Francesco Greco, Diana Canetti, Ahmad Munir Masri, Ellen D. McPhail, Lidia Ciccone, L Menichetti, Maria Franzini, Giampaolo Merlini, Liam A. McDonnell, Angela Pucci, Cristina Basso, M Merlo, G Limongelli, Gianfranco Sinagra, Marianna Fontana, Alberto Aimo, Julian D. Gillmore, Michele Emdin, Giuseppe Vergaro, Vincenzo Castiglione
article en

Abstract

Amyloidosis is a heterogeneous group of protein misfolding disorders characterized by the deposition of amyloid fibrils in tissues, which causes progressive organ dysfunction. Among the various forms, cardiac involvement by transthyretin (ATTR) and immunoglobulin light chain (AL) amyloidosis is particularly significant, as it is the main determinant of prognosis and treatment. In clinical practice, tissue biopsy remains crucial for diagnosing amyloidosis. Amyloid histological typing can be performed using antibody-based methods such as immunohistochemistry and immunoelectron microscopy. Mass spectrometry-based bottom-up proteomics has emerged as a powerful alternative, offering precise identification and quantification of amyloidogenic proteins. Despite being regarded as an effective technique for amyloid typing, the application of proteomics remains limited to specialized centers due to its technical complexity and lack of standardization in clinical workflows. This paper describes the current use of proteomics in patients with cardiac amyloidosis, based on the experience of referral centers in the USA and Europe, to provide guidance on improving the technique's reliability and to identify standard practices, challenges, and gaps in the clinical application of amyloidosis typing.

Analytical ChemistryVol. 98(10)
University of Pisa (IT), University of Padua (IT), University of Trieste (IT), Scuola Superiore Sant'Anna (IT), Oregon Health & Science University (US), University of Campania "Luigi Vanvitelli" (IT), University of Pavia (IT), Fondazione Pisa (IT), WinnMed (US), Istituto di Fisiologia Clinica (IT), Amyloidosis Foundation (US), Health Center (US), Fondazione Toscana Gabriele Monasterio (IT), Azienda Sanitaria Universitaria Integrata di Trieste (IT), Azienda Ospedaliera Universitaria Pisana (IT), University College London (GB), University of Florida Health Science Center (US), International Flame Research Foundation (IT)
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Openalex Percentile: Top 34%
Amyloidosis: Diagnosis, Treatment, Outcomes
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