Urinary titin in myotonic dystrophy type 1

© 2023 The Authors. Muscle & Nerve published by Wiley Periodicals LLC..

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2023

Erschienen:

2023

Enthalten in:

Zur Gesamtaufnahme - volume:68

Enthalten in:

Muscle & nerve - 68(2023), 2 vom: 27. Aug., Seite 215-218

Sprache:

Englisch

Beteiligte Personen:

Varga, Dávid [VerfasserIn]
Perecz, Brigitta [VerfasserIn]
Fülöp, Krisztina [VerfasserIn]
Sipos, Andrea [VerfasserIn]
Janszky, József Vlagyimir [VerfasserIn]
Hajdú, Nándor [VerfasserIn]
Pál, Endre [VerfasserIn]

Links:

Volltext

Themen:

AYI8EX34EU
Biomarkers
Connectin
Creatinine
Journal Article
Muscle impairment rating scale
Myotonic dystrophy type 1
Research Support, Non-U.S. Gov't
Urinary titin

Anmerkungen:

Date Completed 21.07.2023

Date Revised 21.07.2023

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1002/mus.27917

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM35793766X