Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS
Our study revealed differences in the serum proteome between BMD and DMD, which comprises proteins involved in the immune response, extracellular matrix organization and hemostasis but not muscle leakage proteins significantly associated with disease progression in DMD. If further evaluated and validated, these biomarker candidates may offer means to monitor disease progression in BMD patients. A2M is of particular interest due to its association with dystrophin expression in BMD muscle and higher abundance in DMD patients in comparison to BMD. If validated, A2M could be used as a pharmacodynamic biomarker in therapeutic clinical trials aiming to restore dystrophin expression.
Authors
- E. Niks (ORCID: https://orcid.org/0000-0001-5892-5143)
- Fredrik Edfors (ORCID: https://orcid.org/0000-0002-0017-7987)
- Cristina Al‐Khalili Szigyarto (ORCID: https://orcid.org/0000-0001-6990-1905)
- Jan J.G.M. Verschuuren (ORCID: https://orcid.org/0000-0002-4572-1501)
- Nienke M. van de Velde (ORCID: https://orcid.org/0000-0002-1541-130X)
- Zaïda Koeks (ORCID: https://orcid.org/0000-0003-4721-4965)
- David Kotol (ORCID: https://orcid.org/0000-0002-5388-3826)
- Andreas Hober (ORCID: https://orcid.org/0000-0001-8947-2562)
- Pietro Spitali (ORCID: https://orcid.org/0000-0003-2783-688X)
- Camilla Johansson (ORCID: https://orcid.org/0000-0002-2685-5715)
- E. Schrama (ORCID: https://orcid.org/0000-0003-3716-6584)
Institutions
- Leiden University Medical Center (NL)
- KTH Royal Institute of Technology (SE)
Publication Details
- Journal
- Skeletal Muscle
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1186/s13395-025-00385-3
- Citations
- 1
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Kungliga Tekniska Högskolan