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. 2023 Aug;68(2):215-218.
doi: 10.1002/mus.27917. Epub 2023 Jun 8.

Urinary titin in myotonic dystrophy type 1

Dávid Varga  1 , Brigitta Perecz  1 , Krisztina Fülöp  2 , Andrea Sipos  1 , József Vlagyimir Janszky  1 , Nándor Hajdú  3 , Endre Pál  1   2
Affiliations

Urinary titin in myotonic dystrophy type 1

Dávid Varga et al. Muscle Nerve. 2023 Aug.

Abstract

Introduction/aims: Urinary titin, an easy-to-obtain marker, has been investigated in muscular dystrophies, but not in myotonic dystrophy type 1 (DM1). We investigated the role of titin as a biomarker of muscle injury in DM1.

Methods: We compared the urinary titin N-fragment/creatinine ratio in 29 patients with DM1 vs. 30 healthy controls. We also recorded clinical data such as muscle strength, serum creatine kinase, DM1-related outcome measures, and the 20-item DM1-activ questionnaire. The severity of the disease was graded using the Muscular Impairment Rating Scale (MIRS).

Results: The titin/creatinine ratio was significantly higher in the urine samples of DM1 patients than of healthy controls (median ± mean absolute deviation [MAD]: 39.313 ± 26.546 vs. 6.768 ± 5.245 pmol/mg creatinine; P < .001), and was related to muscle impairment graded by MIRS (τ = 0.503, P = .038).

Discussion: Urinary titin may be a biomarker for DM1. Long-term follow-up of DM1 patients is needed to investigate the potential role of titin as a biomarker for disease activity and progression.

Keywords: muscle impairment rating scale; myotonic dystrophy type 1; urinary titin.

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References

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