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Related Concept Videos

Proteomics01:33

Proteomics

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A proteome is the entire set of proteins that a cell type produces. We can study proteomes using the knowledge of genomes because genes code for mRNAs, and the mRNAs encode proteins. Although mRNA analysis is a step in the right direction, not all mRNAs are translated into proteins.
Proteomics is the study of proteomes' function. It involves the large-scale systematic study of the proteome to denote the protein complement expressed by a genome. Scientist Mark Wilkins coined the term...
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MALDI-TOF Mass Spectrometry01:19

MALDI-TOF Mass Spectrometry

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Mass spectrometry is a powerful characterization technique that can identify and separate a wide variety of compounds ranging from chemical to biological entities, based on their mass-to-charge ratio (m/z). The instruments that allow this detection, known as mass spectrometers, have three components: an ion source, a mass analyzer, and a detector. These spectrometers differ based on the nature of their ion source and analyzers.
Matrix-assisted laser desorption ionization (MALDI) is a commonly...
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Peptide Identification Using Tandem Mass Spectrometry01:33

Peptide Identification Using Tandem Mass Spectrometry

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Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...
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Related Experiment Video

Updated: Jul 30, 2025

A Clinical Metaproteomics Workflow Implemented within Galaxy Bioinformatics Platform to Analyze Host-Microbiome Interactions Underlying Human Disease
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A Clinical Metaproteomics Workflow Implemented within Galaxy Bioinformatics Platform to Analyze Host-Microbiome Interactions Underlying Human Disease

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Variant biomarker discovery using mass spectrometry-based proteogenomics.

Luke Reilly1, Sahba Seddighi2, Andrew B Singleton1,3

  • 1Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.

Frontiers in Aging
|May 11, 2023
PubMed
Summary
This summary is machine-generated.

Variant proteins, detected using proteogenomics, offer new biomarkers for diagnosing and stratifying patients with cancers and neurodegenerative diseases, especially aging-related conditions.

Keywords:
agingbiomarkercancersneurodegenerativeproteogenomics

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Area of Science:

  • Genomic Medicine
  • Proteomics
  • Biomarker Discovery

Background:

  • Genomic variants at DNA/RNA levels are linked to disease, but their protein products are the functional disease units.
  • Variant proteins released in biofluids are promising for clinical diagnosis and patient stratification.
  • Proteogenomics, integrating genomics and proteomics, advances understanding of disease risk variants and precision medicine.

Purpose of the Study:

  • To review the role of variant proteins in cancers and neurodegenerative diseases.
  • To outline current and emerging proteogenomic approaches for biomarker discovery.
  • To propose a comprehensive proteogenomic strategy for identifying biomarker candidates in biospecimens.

Main Methods:

  • Review of literature on variant proteins and proteogenomic applications.
  • Discussion of proteogenomic strategies for biomarker candidate detection.
  • Focus on cancers, neurodegenerative diseases, and aging-related diseases.

Main Results:

  • Variant proteins are key functional units of disease, detectable in biofluids.
  • Proteogenomic approaches significantly enhance biomarker discovery for disease risk and precision medicine.
  • A universal proteogenomic strategy can be applied across various research fields.

Conclusions:

  • Variant proteins represent a critical frontier in disease biomarker discovery.
  • Proteogenomics provides powerful tools for leveraging variant proteins in clinical settings.
  • The proposed strategy supports the identification of novel biomarkers for aging-related diseases and beyond.