Platelet-derived growth factor-AA (PDGF-AA) could function as a biomarker to track the progression of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) according to the results of a study published in Frontiers of Neurology.
DMD and BMD are X-linked recessive disorders caused by mutations of the DMD gene. Both DMD and BMD are slow-developing diseases, and the detection of functional changes over a short interval is not an easy task. In recent years, several tests have been identified to detect these disorders.
According to the study authors, “there is no standard serum biomarker so far that correlates with several muscle function tests which could ultimately be used for clinical trials or natural history studies.”
Clinical trials intended for these disorders must prove incidence or absence of effect in a shorter duration. According to the study authors, it would be beneficial to have biomarkers that can closely follow the pathophysiological mechanisms of these diseases and be used as outcome measures.
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A transverse study comprising 19 DMD and 13 BMD patients was conducted to analyze the serum concentration of 4 growth factors linked to muscle fibrosis. The study also included 66 healthy controls (8 pediatric and 58 adults) and 15 dysferlinopathy (DYSF) patients. The investigators compared the concentrations using several muscle function tests, spirometry results, and fat fraction identified by quantitative MRI (qMRI). The results indicated essential differences in the serum concentration of PDGF-AA between DMD subjects and pediatric controls, in connective tissue growth factor (CTGF) between BMD patients and adult controls, and transforming growth factor- β1 (TGF-β1) between BMD and DYSF patients.
PDGF-AA demonstrated a significant correlation with results of several muscle function tests for DMD and BMD patients. Furthermore, the increase of PDGF-AA levels in muscle biopsies of patients with DMD and BMD was validated by immunohistochemistry and real-time polymerase chain reaction (PCR) studies.
Despite promising results obtained from the study, it was limited because of the small cohort size. The researchers concluded that PDGF-AA should be further studied in a larger group of DMD and BMD patients, as preliminary results indicate it might be a prospective biomarker candidate to monitor the progress of these recessive diseases.
Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, et al. Platelet derived growth factor-AA correlates with muscle function tests and quantitative muscle magnetic resonance in dystrophinopathies. Front Neurol. 2021;12:659922. doi:10.3389/fneur.2021.659922