Tumor necrosis factor-alpha and myocardial function in patients with myotonic dystrophy type 1

Mammarella, Antonio; Ferroni, Patrizia; Paradiso, Michele; Martini, Francesca; Paoletti, Vincenzo; Morino, Stefania; Antonini, Giovanni; Gazzaniga, Pier Paolo; Musca, Antonino; Basili, Stefania

« Previous Next »Journal of the Neurological Sciences
Volume 201, Issue 1 , Pages 59-64, 15 September 2002

Tumor necrosis factor-alpha and myocardial function in patients with myotonic dystrophy type 1

Antonio Mammarella
- Department of Medical Therapy, University of Rome “La Sapienza”, Viale Del Policlinico, 155, 00184 Rome, Italy
Patrizia Ferroni
- Department of Experimental Medicine and Pathology, University of Rome “La Sapienza”, Rome, Italy
Michele Paradiso
- Department of Medical Therapy, University of Rome “La Sapienza”, Viale Del Policlinico, 155, 00184 Rome, Italy
Francesca Martini
- Department of Experimental Medicine and Pathology, University of Rome “La Sapienza”, Rome, Italy
Vincenzo Paoletti
- Department of Medical Therapy, University of Rome “La Sapienza”, Viale Del Policlinico, 155, 00184 Rome, Italy
Stefania Morino
- Department of Neurological Sciences, University of Rome “La Sapienza”, Rome, Italy
Giovanni Antonini
- Department of Neurological Sciences, University of Rome “La Sapienza”, Rome, Italy
Pier Paolo Gazzaniga
- Department of Experimental Medicine and Pathology, University of Rome “La Sapienza”, Rome, Italy
Antonino Musca
- Department of Medical Therapy, University of Rome “La Sapienza”, Viale Del Policlinico, 155, 00184 Rome, Italy
Stefania Basili
- Corresponding author. Tel.: +39-6-49970813; fax: +39-6-49972436
- Department of Medical Therapy, University of Rome “La Sapienza”, Viale Del Policlinico, 155, 00184 Rome, Italy

Received 8 February 2002; received in revised form 19 April 2002; accepted 4 June 2002.

Abstract

An imbalance of TNF system activity has been reported in patients with myotonic dystrophy type 1 (DM1). Nevertheless, the question whether TNF-α action is directly implicated in the pathogenesis of DM1 or is a simple marker of disease activity is still open. Therefore, the present study was aimed to investigate serum tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and IL-6 levels in association with the disease stage, cytosine–thymine–guanine (CTG) expansion and cardiac function of 56 patients with DM1 (40±14 years) and 28 healthy controls (42±12 years). All subjects were submitted to resting electrocardiogram (EKG), Signal-averaged EKG (SA-EKG), and M-mode/2-D echocardiography. TNF-α levels were higher in patients compared to controls (p<0.0003) and were associated to disease stage (p<0.02). Significant correlation were observed between TNF and CTG expansion (p<0.005) or PQ intervals (p<0.0005). Ventricular late potentials (VLPs) occurred in 54% of cases. In these patients, TNF-α levels were higher compared to those without VLPs (p<0.05). We may conclude that TNF-α levels might represent and adjunctive criterion for disease staging in patients with myotonic dystrophy type 1, and that elevated TNF levels in DM1 may lead to cardiac fibrosis affecting diastolic function, conduction, and automaticity.

Keywords: Myotonic dystrophy type 1, Cytokines, Tumor necrosis factor-alpha, Diastolic function, Ventricular late potentials, QT-dispersion