Proteoforms: General Concepts and Methodological Process for Identification

Abstract

The term proteoform is used to denote all the molecular forms in which the protein product of a single gene can be found. The most frequent processes that lead to transcript modification and the biological implications of these changes observed in the final protein product will be discussed. Proteoforms arising from genetic variations, alternatively spliced RNA transcripts and post-translational modifications will be commented. This chapter will present an evolution of the techniques used to identify the proteoforms and the importance of this identification for understanding of biological processes. This chapter highlights the fundamental concepts in the field of top-down mass spectrometry (TDMS), and provides numerous examples for the use of knowledge obtained from the identification of proteoforms. The identification of mutant proteins is one of the emerging areas of proteogenomics and has the potential to recognize novel disease biomarkers and may point to useful targets for identification of therapeutic approaches.

Immunoaffinity Capillary Electrophoresis in the Era of Proteoforms, Liquid Biopsy and Preventive Medicine: A Potential Impact in the Diagnosis and Monitoring of Disease Progression

“…As a consequence of the vast number of proteoforms that can be formed, the number of proteins in an individual's proteome far exceeds the number of protein-coding genes in the human genome [41,42]. The identification of more proteoforms associated with different diseases will undoubtedly be an essential landmark discovery necessary for early diagnosis, prevention and treatment of disease [43,44]. While proteomics, or the study of proteins, has become an increasingly important topic of study amongst researchers, proteins and enzymes biomarkers have been used as diagnostic tools for many years [45][46][47].…”