The Role of Differential Proteomics in Amyloid Typing: The Experience of the Pavia Referral Center
Upon demonstration of the presence of amyloid deposits in tissues, disease typing is necessary for establishing a correct diagnosis, planning a therapeutic strategy, defining the prognosis, and programming genetic counseling. Recent years have witnessed the introduction in the clinical setting of a new resource for the characterization of tissue amyloid deposits: mass spectrometry-based proteomics. Proteomics, centered on the identification of the deposited proteins through mass spectrometry (MS), is being increasingly used by major centers worldwide and allows typing of known as well as novel forms of these diseases.
The Amyloid Center at IRCCS Policlinico San Matteo/University of Pavia, in collaboration with ITB-CNR in Milan, has developed comparative proteomic approaches that allow amyloid typing on subcutaneous abdominal fat and tissue biopsies, and can be employed as first-line or support diagnostic methods on Congo red-positive samples. In addition, the “amyloid proteome signature” may be used as a novel molecular strategy to support the diagnosis of amyloidosis.
This chapter describes the clinical approaches that are currently in use at the Amyloid Center in Pavia, and how they are used in conjunction with the other available typing resources, in particular electron microscopy.
KeywordsAmyloid Diagnosis Amyloid typing Abdominal fat Organ biopsy Proteomics Mass spectrometry Protein extraction Proteolytic digestion Label-free proteomics comparison Protein sequences databases Computational analysis
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