Advancing RNA Therapies in Neuromuscular Disease

 

RNA-based therapeutics, including antisense oligonucleotides (ASOs), have opened new pathways for treating genetically driven neuromuscular diseases like Amyotrophic Lateral Sclerosis (ALS) and Duchenne Muscular Dystophy (DMD). By targeting underlying mutations at the transcript level, ASOs offer the promise of disease-modifying effects, whether by restoring protein expression, correcting splicing defects, or silencing toxic transcripts.

Landmark advances, such as FDA-approved ASO therapies for spinal muscular atrophy and ALS (e.g., Tofersen, targeting SOD1), have shown what's possible. The next challenge lies in delivery, tracking, and tissue-specific uptake, especially in hard-to-reach targets like motor neurons and muscle fibers. 

Tracking and Validating RNA Therapuetics In Situ

Recent research from Roche (Nature, 2025) highlights the importance of intracellular trafficking in determining the efficacy of RNA therapies. Using a CRISPR screen, the study identified key regulators of endosomal transport, providing new levers to enhance RNA drug bioavailability in disease-relevant tissues. 

These insights underscore the need for reliable molecular tools to:
  • Confirm ASO uptake in affected tissues
  • Quantify target protein modulation
  • Visualize ASO localization at cellular and subcellular levels

Rockland's Tools for the RNA Therapeutics Workflow

Antibodies from Rockland and antibodies-online support critical steps in RNA theraputic development for ALS and DMD:

ALS-related Targets

Product Target Relevance Applications
Anti-TDP43 TARDBP Hallmark of RNA-binding portein mislocalized in ALS WB, IHC, ICC
Anti-SOD1 SOD1 Mutated in familial ALS, target of approved ASO therapy (Tofersen) WB, IHC, ICC
Anti-C9ORF72 C9ORF72 Most common genetic ALS mutation; key ASO target  
Anti-STMN2   STMN2 Key ASO efficacy readout downstream of TDP-43 dysfunction WB, IHC, ICC
Anti-Neurofilament L NEFL (NF-L) Biomarker of axonal damage; used as a clinical endpoint in trials WB, IHC
Anti-EAAT2 SLC1A2 (EAAT2) Excitotoxicity regulator; target of neuroprotection strategies WB, IHC
Anti-SQSTM1/p62 SQSTM1 (p62) Aggregation and autophagy marker, ALS biomarker WB, IHC
Anti-Nogo-A RTN4 (Nogo-A) Inhibitor of axonal regeneration; ALS and neurotrauma models WB, IHC


DMD-related Targets

Product Target Relevance Application
Anti-Dystrophin Dystrophin Gold-standard marker for ASO rescue of DMD expression WB, IHC
Anti-Utrophin   Utrophin Functional dystophin analog; upregulation supports muscle integrity WB, IHC, ICC
Anti-MSTN   MSTN (Mystatin) Inhibitor of muscle growth; suppression is a therapeutic strategy WB, IHC
Anti-CTGF   CTGF Pro-fibrotic marker upregulated in DMD; monitors muscle healing response WB, IHC
Anti-VDAC1   VDAC1 Marker of mitochondiral dysfunction in dystrophic muscle WB, IHC, ICC, IF
HDAC1-10 HDACs Epigenetic regulators; HDAC inhibiton may enhance regeneration WB, IHC
Anti-TGFB1   TGF-β1 Master regulator of fibosis; often used alongside CTGF WB, ELISA, IHC
Anti-CD68 CD68 Macrophage infiltration marker; tracks inflammation and immune response WB, IHC

Track ASO Distribution and Localization with ModDetect™

  • Compatible with IHC, ICC, and quantitative assays
  • Enables co-localization with ALS/DMD biomarkers
Learn more