Cell Biology JoVE (Open Access) Citable · DOI

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Name: Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Uploaded: 2026-08-05
Duration: 5 min 16 s
Description: Duchenne muscular dystrophy (DMD) is a degenerative muscle disease that causes progressive loss of muscle mass, leading to premature death. The mutations ...

DOI: 10.3791/60672-v

What you'll learn

✓ Perform muscle sample preparation from DMD patients
✓ Section muscle tissue for molecular analysis
✓ Quantify exon skipping efficiency via RT-PCR
✓ Assess dystrophin expression using western blotting

Protocol

Biopharma Insights Here, we present the molecular characterization of dystrophin 38 expression using Sanger sequencing, RT-PCR, and western blotting in the clinical trial.

Difficulty

advanced

Total time

~3-4 days per sample set

Model organism

Human DMD patient muscle samples

Biosafety

BSL-2

Steps

Prepare muscle samples from DMD patients

Obtain and process muscle biopsy samples for further analysis.

▶ 01:05

Section muscle tissue for analysis

Cut thin sections from the muscle sample to enable molecular assays.

▶ 02:10

Quantify exon skipping and dystrophin levels

Analyze results to determine exon skipping efficiency and dystrophin protein expression using representative data.

▶ 03:00

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