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Proteomics in Inherited Metabolic Disorders
Maria Del Pilar Chantada-Vázquez1, Susana B Bravo1, Sofía Barbosa-Gouveia2
1Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.
International Journal of Molecular Sciences
|December 11, 2022
Summary
Proteomics, particularly tandem mass spectrometry (MS/MS), offers powerful tools for studying inherited metabolic disorders (IMDs). This approach aids in early diagnosis and understanding disease mechanisms for rare genetic conditions.
Area of Science:
- Biochemistry
- Genetics
- Proteomics
Background:
- Inherited metabolic disorders (IMDs) are rare genetic conditions affecting metabolism.
- Phenotypes are variable, appearing at any age, necessitating early diagnosis.
- Advancements in treatable IMDs underscore the need for better understanding and diagnosis.
Purpose of the Study:
- To review challenges and advances in applying proteomics to IMD research.
- To highlight the utility of tandem mass spectrometry (MS/MS) in IMD studies.
- To discuss the role of proteomics in biomarker discovery and therapeutic development for rare diseases.
Main Methods:
- Utilizing tandem mass spectrometry (MS/MS) for proteome characterization.
- Employing sequential window acquisition of all theoretical fragmentation spectra mass spectrometry (SWATH-MS) for protein identification and quantification.
- Analyzing various biological fluids including serum, plasma, urine, saliva, and tears.
Main Results:
- MS/MS enables large-scale protein analysis in multiple body fluids, even from dried samples.
- SWATH-MS provides high-resolution identification and quantification of differentially expressed proteins in IMD patients.
- Proteomics offers new insights into disease mechanisms and potential therapeutic targets.
Conclusions:
- Proteomics is a crucial approach for advancing the study of rare genetic diseases like IMDs.
- Biomarker identification through proteomics can significantly aid early diagnosis.
- Understanding complex IMD phenotypes via proteomics is essential for developing novel therapies and understanding human diseases.
Keywords:
biomarkersenzyme replacement therapyinborn errors of metabolismlysosomal disordersproteomicsMore Related Videos
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