Irisin and brain-derived neurotrophic factor in Myotonic Dystrophy type 1

Erica Frezza

Irisin and brain-derived neurotrophic factor in Myotonic Dystrophy type 1

Autori

ERICA FREZZA (DEPARTMENT OF SYSTEMS MEDICINE, UNIVERSITY OF ROME “TOR VERGATA”, VIA MONTPELLIER 1, 00133 ROME, ITALY. – NEUROLOGIA)
MARIANGELA GOGLIA (DEPARTMENT OF SYSTEMS MEDICINE, UNIVERSITY OF ROME “TOR VERGATA”, VIA MONTPELLIER 1, 00133 ROME, ITALY. – NEUROLOGIA)
GIULIA GRECO (DEPARTMENT OF SYSTEMS MEDICINE, UNIVERSITY OF ROME “TOR VERGATA”, VIA MONTPELLIER 1, 00133 ROME, ITALY. – NEUROLOGIA)
Vietri Giovanni (Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, Italy. – NEUROLOGIA)
Ilaria Petitta (Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, Italy. – NEUROLOGIA)
Francesco Gruosso (Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, Italy. – NEUROLOGIA)
Giulia Nardino (Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, Italy. – NEUROLOGIA)
Laura Boffa (Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, Italy. – NEUROLOGIA)
Marzia Nuccetelli (Department of Laboratory Medicine, Tor Vergata University Hospital, Viale Oxford 81, 00133 Rome, Italy. – MEDICINA DI LABORATORIO)
Roberto Massa (Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133 Rome, Italy – NEUROLOGIA)

Presentatore

ERICA FREZZA (DEPARTMENT OF SYSTEMS MEDICINE, UNIVERSITY OF ROME “TOR VERGATA”, VIA MONTPELLIER 1, 00133 ROME, ITALY)

Modalità

Poster Session

Abstract

Myotonic dystrophy type 1 is a dominantly inherited disease characterized by multisystemic involvement. Muscle and brain are main targets of the disease. Brain pathology is characterized by deposition of a mis-spliced Tau protein. An example of the muscle-brain crosstalk is represented by the interplay between the myokine irisin and the brain-derived neurotrophic factor (BDNF). Therefore, the aim of this pilot study is to investigate the irisin/BDNF signaling and plasmatic pTau concentration in DM1.
DM1 patients underwent a complete neurological evaluation with 6 Minute walking test, anthropometric measures, and fasting blood sampling for glucometabolic status. The irisin, BDNF and 181pTau assay was performed in patients with DM1 and 13 healthy controls (HC). Descriptive statistics, t test and correlations were performed.
Twenty adult DM1 patients were enrolled in the present study (13 F, 7 M). Plasmatic irisin and BDNF levels were higher in DM1 compared to HC. Plasmatic 181pTau was elevated in the majority of DM1. An inverse correlation was found between plasmatic irisin and both BMI and Homa index. Patients with excessive daytime sleepiness (EDS) showed a significantly greater level of plasmatic BDNF (p< 0.01) and 181pTau (p<0.01).
The known metabolic alterations present in DM1 seems to be supported by the observed values of irisin. The elevated BDNF and 181pTAU values in DM1 patients with EDS may reflect the alterations present in the CNS. Further analysis and a larger sample of patients are needed for a better understanding of the mechanisms underlying the muscle-brain interaction in this complex disease.