PMID- 37291994
OWN - NLM
STAT- MEDLINE
DCOM- 20230721
LR  - 20230721
IS  - 1097-4598 (Electronic)
IS  - 0148-639X (Linking)
VI  - 68
IP  - 2
DP  - 2023 Aug
TI  - Urinary titin in myotonic dystrophy type 1.
PG  - 215-218
LID - 10.1002/mus.27917 [doi]
AB  - 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 (tau = 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.
CI  - (c) 2023 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.
FAU - Varga, David
AU  - Varga D
AD  - Department of Neurology, University of Pecs, Medical School, Pecs, Hungary.
FAU - Perecz, Brigitta
AU  - Perecz B
AD  - Department of Neurology, University of Pecs, Medical School, Pecs, Hungary.
FAU - Fulop, Krisztina
AU  - Fulop K
AD  - Department of Pathology, Neuropathology Unit, University of Pecs, Medical School, 
      Pecs, Hungary.
FAU - Sipos, Andrea
AU  - Sipos A
AD  - Department of Neurology, University of Pecs, Medical School, Pecs, Hungary.
FAU - Janszky, Jozsef Vlagyimir
AU  - Janszky JV
AD  - Department of Neurology, University of Pecs, Medical School, Pecs, Hungary.
FAU - Hajdu, Nandor
AU  - Hajdu N
AD  - Institute of Psychology, ELTE, Eotvos Lorand University, Budapest, Hungary.
FAU - Pal, Endre
AU  - Pal E
AUID- ORCID: 0000-0001-6525-0754
AD  - Department of Neurology, University of Pecs, Medical School, Pecs, Hungary.
AD  - Department of Pathology, Neuropathology Unit, University of Pecs, Medical School, 
      Pecs, Hungary.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230608
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
RN  - 0 (Connectin)
RN  - AYI8EX34EU (Creatinine)
RN  - 0 (Biomarkers)
SB  - IM
MH  - Humans
MH  - *Myotonic Dystrophy
MH  - Connectin
MH  - Creatinine
MH  - Muscles
MH  - Biomarkers
OTO - NOTNLM
OT  - muscle impairment rating scale
OT  - myotonic dystrophy type 1
OT  - urinary titin
EDAT- 2023/06/09 06:42
MHDA- 2023/07/21 06:43
CRDT- 2023/06/09 04:11
PHST- 2023/05/16 00:00 [revised]
PHST- 2022/08/27 00:00 [received]
PHST- 2023/05/20 00:00 [accepted]
PHST- 2023/07/21 06:43 [medline]
PHST- 2023/06/09 06:42 [pubmed]
PHST- 2023/06/09 04:11 [entrez]
AID - 10.1002/mus.27917 [doi]
PST - ppublish
SO  - Muscle Nerve. 2023 Aug;68(2):215-218. doi: 10.1002/mus.27917. Epub 2023 Jun 8.