Longitudinal multi-omics profiling of spinal muscular atrophy - PubMed

4 hours ago

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.

Hasty Briefsbeta