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Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

17 Apr 2025

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the survival motor neuron 1 ( SMN1 ) gene. Although disease severity partially correlates with SMN2 copy number, significant variability in disease severity and treatment response remains unexplained, prompting a search for additional biomarkers. Using native, long-read nanopore and targeted short-read bisulfite sequencing,...

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PMID: 40384931
DOI: 10.1016/j.isci.2025.112461

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