Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy

M Schiavone, A Zulian, S Menazza, V Petronilli… - Pharmacological …, 2017 - Elsevier
Pharmacological Research, 2017Elsevier
Duchenne muscular dystrophy (DMD) is a severe muscle disease of known etiology without
effective, or generally applicable therapy. Mitochondria are affected by the disease in animal
models but whether mitochondrial dysfunction is part of the pathogenesis in patients
remains unclear. We show that primary cultures obtained from muscle biopsies of DMD
patients display a decrease of the respiratory reserve, a consequence of inappropriate
opening of the permeability transition pore (PTP). Treatment with the cyclophilin inhibitor …
Abstract
Duchenne muscular dystrophy (DMD) is a severe muscle disease of known etiology without effective, or generally applicable therapy. Mitochondria are affected by the disease in animal models but whether mitochondrial dysfunction is part of the pathogenesis in patients remains unclear. We show that primary cultures obtained from muscle biopsies of DMD patients display a decrease of the respiratory reserve, a consequence of inappropriate opening of the permeability transition pore (PTP). Treatment with the cyclophilin inhibitor alisporivir − a cyclosporin A derivative that desensitizes the PTP but does not inhibit calcineurin − largely restored the maximal respiratory capacity without affecting basal oxygen consumption in cells from patients, thus reinstating a normal respiratory reserve. Treatment with alisporivir, but not with cyclosporin A, led to a substantial recovery of respiratory function matching improved muscle ultrastructure and survival of sapje zebrafish, a severe model of DMD where muscle defects are close to those of DMD patients. Alisporivir was generally well tolerated in HCV patients and could be used for the treatment of DMD.
Elsevier