Longitudinal multi-omics profiling of spinal muscular atrophy - PubMed
6 hours ago
- #Biomarkers
- #Metabolomics
- #Proteomics
- Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by SMN1 gene variants.
- Nusinersen has transformed SMA management, but variability in patient response necessitates objective biomarkers.
- The study identified biomarkers in cerebrospinal fluid (CSF) and plasma for SMA diagnosis and progression monitoring.
- Elevated levels of acylcarnitines, biogenic amines, and neurology-related proteins were found in SMA plasma samples.
- Glycerophospholipids primarily decreased in SMA plasma samples compared to controls.
- Biomarkers showed high performance in distinguishing SMA from controls with plasma AUCs >0.9.
- NEFH and creatinine were prominent biomarkers for SMA diagnosis.
- 26 neurology-related proteins were altered in patient CSF compared to controls.
- 11 potential proteins distinguished patients with 2 copies of SMN2 from those with 3 or 4 copies using plasma.
- The study provides insights for accurate SMA diagnosis and personalized treatment monitoring.