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Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study.
Fiorella Piemonte1, Sara Petrillo1, Anna Capasso2,3
1Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Annals of Clinical and Translational Neurology
|May 14, 2025
Summary
Myostatin levels are lower in spinal muscular atrophy (SMA) patients, correlating with disease severity. Disease-modifying therapies (DMTs) did not significantly alter myostatin levels in most SMA patients.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by progressive muscle weakness.
- Myostatin is a protein that inhibits muscle growth and has been implicated in various muscle-wasting conditions.
- Disease-modifying therapies (DMTs) aim to alter the course of SMA, but their impact on specific biomarkers like myostatin is not fully understood.
Purpose of the Study:
- To investigate myostatin levels in patients with SMA receiving DMTs.
- To determine the relationship between myostatin levels, treatment duration, and functional status in SMA patients.
- To explore myostatin's potential as a biomarker for SMA severity and treatment response.
Main Methods:
- Cross-sectional and longitudinal analyses of myostatin levels in SMA patients undergoing treatment.
- Measurement of myostatin using ELISA in 128 cross-sectional patients and 46 longitudinal patients (baseline and 12-month follow-up).
- Comparison with age-matched controls (n=89) and correlation of myostatin levels with SMA type, functional status, and clinical outcomes.
Main Results:
- SMA patients exhibited significantly lower baseline myostatin levels compared to controls (p < 0.001), except in neonatal presymptomatic cases.
- No significant changes in myostatin levels were observed after 12 months of DMTs (p = 0.1652), with a notable reduction only in presymptomatic neonates.
- Significant correlations were found between myostatin levels, functional status, and SMA type in both cross-sectional and longitudinal cohorts.
Conclusions:
- SMA patients generally have lower myostatin levels than controls.
- Myostatin levels correlate with SMA functional status and type, suggesting potential as a disease severity biomarker.
- The role of myostatin as a biomarker for DMT response is uncertain; no significant increase post-treatment was observed, contrasting with prior findings in untreated patients.
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