Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future
Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the unde...
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| Format: | Article |
| Language: | English |
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MDPI AG
2025-01-01
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| Series: | Biomolecules |
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| Online Access: | https://www.mdpi.com/2218-273X/15/1/130 |
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| author | Marc Pauper Andreas Hentschel Malte Tiburcy Sergi Beltran Tobias Ruck Ulrike Schara-Schmidt Andreas Roos |
| author_facet | Marc Pauper Andreas Hentschel Malte Tiburcy Sergi Beltran Tobias Ruck Ulrike Schara-Schmidt Andreas Roos |
| author_sort | Marc Pauper |
| collection | DOAJ |
| description | Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents—also through exemplary case studies—the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes. The steady development may allow to overcome existing limitations including a quenched dynamic range and quantification of different protein isoforms. Future directions may include targeted proteomics in diagnostic settings using not only muscle biopsies but also liquid biopsies to address the need for minimally invasive procedures. |
| format | Article |
| id | doaj-art-32f4d095f8bb4f59856569bfe640cf3b |
| institution | Kabale University |
| issn | 2218-273X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj-art-32f4d095f8bb4f59856569bfe640cf3b2025-01-24T13:25:18ZengMDPI AGBiomolecules2218-273X2025-01-0115113010.3390/biom15010130Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the FutureMarc Pauper0Andreas Hentschel1Malte Tiburcy2Sergi Beltran3Tobias Ruck4Ulrike Schara-Schmidt5Andreas Roos6Centro Nacional de Análisis Genómico (CNAG), Baldiri Reixac 4, 08028 Barcelona, SpainLeibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44227 Dortmund, GermanyInstitute of Pharmacology and Toxicology, University Medical Center Göttingen, Georg August University, 37075 Göttingen, GermanyCentro Nacional de Análisis Genómico (CNAG), Baldiri Reixac 4, 08028 Barcelona, SpainDepartment of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, GermanyDepartment of Pediatric Neurology, Centre for Neuromuscular Disorders, University Duisburg-Essen, 45147 Essen, GermanyDepartment of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, GermanyProteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents—also through exemplary case studies—the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes. The steady development may allow to overcome existing limitations including a quenched dynamic range and quantification of different protein isoforms. Future directions may include targeted proteomics in diagnostic settings using not only muscle biopsies but also liquid biopsies to address the need for minimally invasive procedures.https://www.mdpi.com/2218-273X/15/1/130muscle proteomicsmuscle biochemistrymuscle organoidsneuromuscular disease biomarkerwhite blood cells in muscle diseasemuscle laser capture microdissection |
| spellingShingle | Marc Pauper Andreas Hentschel Malte Tiburcy Sergi Beltran Tobias Ruck Ulrike Schara-Schmidt Andreas Roos Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future Biomolecules muscle proteomics muscle biochemistry muscle organoids neuromuscular disease biomarker white blood cells in muscle disease muscle laser capture microdissection |
| title | Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future |
| title_full | Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future |
| title_fullStr | Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future |
| title_full_unstemmed | Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future |
| title_short | Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future |
| title_sort | proteomic profiling towards a better understanding of genetic based muscular diseases the current picture and a look to the future |
| topic | muscle proteomics muscle biochemistry muscle organoids neuromuscular disease biomarker white blood cells in muscle disease muscle laser capture microdissection |
| url | https://www.mdpi.com/2218-273X/15/1/130 |
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