Caterina Tonon1, Emil Malucelli1, Patrizia Avoni2, David Neil Manners1, Claudia Testa1, Sara Contardi2, Valerio Carelli3, Bruno Barbiroli1, Rocco Liguori2, Raffaele Lodi1
1MR Spectroscopy Unit, University of Bologna, Bologna, Italy, Italy; 2Department of Neurological Sciences , University of Bologna, Bologna, Italy, Italy; 3Department of Neurological Sciences, University of Bologna, Bologna, Italy, Italy
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by an abnormal CTG expansion on chromosome 19q13.3, affecting central nervous system, skeletal muscle, heart and endocrine systems. We evaluated 14 DM1 patients by MRS in order to investigate brain and skeletal muscle bioenergetics. Brain 1H-MRS showed an increase of ventricular lactate, and 31P-MRS demonstrated alterations in skeletal muscle bioenergetics. Our data support the hypothesis of a pathogenic role of oxidative phosphorylation deficit in DM1 and suggest a rationale for the evaluation of therapeutic strategies targeted to overcome the mitochondrial dysfunction.