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Becker Muscular Dystrophy (BMD) is an X-linked recessive inherited disease typically caused by in-frame mutations in the dystrophin gene. The symptoms are very heterogeneous with ranging from relatively mild muscle weakness allowing individuals to walk long-terms to severe early onset weakness resulting in loss of ambulation in young age. It has been a growing need to develop objective biomarkers that can be used for disease assessment and in clinical testing.

A Research group at Binghamton University, State University of New York conducted a comprehensive proteomic analysis of urine samples from BMD patients and identified urinary N-Titin as the non-invasive biomarker most strongly associated with disease severity.

Research Overview
- Measured urine samples from 50 BMD patients (33 ambulatory BMD, 17 non-ambulatory BMD) and 11 Healthy controls
- Comprehensive urinary proteome analysis by Label-Free Quantification (LFQ) and Tandem Mass Tag (TMT)
- Verify candidate proteins by PRM, Western blot and ELISA
- Assess relation between urinary protein and disease status

Key Findings
- Comprehensive proteomic analysis revealed elevated Muscle injury-associated proteins, such as Titin, MYH2, MYH7, MYBPH and FLNC in the BMD patient samples
- Titin showed clear differences not only between healthy control and BMD patients, but also between ambulatory and non-ambulatory
- Titin was identified as the most promising biomarker among several candidates
- Consistently observed elevated urinary N-Titin level in BMD patients by PRM, Western blot and ELISA
- N-Titin value was higher in BMD patient against Healthy control
    4.56-fold in ambulatory
    2.32-fold in non-ambulatory
- N-Titin value in ambulatory BMD showed significantly higher than non-ambulatory BMD
- The study suggested that N-titin is a candidate in accessing disease severity

Titin is one of the largest structural proteins constituting the sarcomere of skeletal muscle, and it is degraded in association with muscle fiber dysfunction. In BMD, the sarcolemma is fragile due to the reduced levels of truncated dystrophin protein and resulting in progressive muscle damage and protein degradation. It is thought that this resulting Titin fragments are excreted into the urine via the bloodstream. This study indicated that urinary N-Titin may be a biomarker reflecting these muscle degeneration processes.

Furthermore, the authors consider that higher N-Titin levels in ambulatory patients may indicate that muscle fiber damage and degradation are more active in patients who have relatively retain more muscle and are highly active. As the disease progresses, patients with irreversible muscle loss and replaced muscle tissue with fatty tissue, may decreased N-Titin excreted in the urine. The authors also indicated that urinary N-terminal titin is a candidate in assessing disease severity and has potential in monitoring disease progression for BMD. However, future research must incorporate larger patient cohorts and a long-term longitudinal design.

The study demonstrated that urinary N-Titin is a promising non-invasive biomarker reflecting the severity of BMD by comprehensive proteomic analysis and validation using multiple methods. N-Titin can be assessed using urine sample, it is expected to be utilized as a useful indicator in future BMD research and treatment development.

Urinary N-titin has already been reported as muscle dysfunction marker in numerous muscle disorders, including Duchenne muscular dystrophy (DMD), spinal muscular atrophy, myotonic dystrophy and limb-girdle muscular dystrophy. This highly significant report extends these findings to BMD and demonstrates a correlation with disease severity.

Please refer to the following publication for more details.

Kimchi K. Le et al.
Urinary Proteome Profiling by Several Methods Identifies Titin as the Most-Differentiating Noninvasive Urinary Biomarker of Disease Severity in Becker Muscular Dystrophy
Proteomes 2026, 14(3), 43


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