Abstract
Duchenne Muscular Dystrophy (DMD) is a fatal genetic muscle wasting disease with no current cure. A prominent, yet poorly treated feature of dystrophic muscle is the dysregulation of energy homeostasis which may be associated with intrinsic defects in key energy systems and promote muscle wasting. As such, supplementative nutriceuticals that target and augment the bioenergetical expansion of the metabolic pathways involved in cellular energy production have been widely investigated for their therapeutic efficacy in the treatment of DMD. We describe the metabolic nuances of dystrophin-deficient skeletal muscle and review the potential of various metabogenic and nutriceutical compounds to ameliorate the pathological and clinical progression of the disease.
Highlights
Characterised as the most severe and aggressive form of all the muscular dystrophies, Duchenne Muscular Dystrophy (DMD) results from a gene mutation at position 21 on the X chromosome and absent expression of the cytoskeletal protein dystrophin [1]
Decades of clinical data suggest the therapeutic value of metabogenic nutriceutical supplements to promote energy and protein homeostasis in dystrophin-deficient muscle of DMD patients and animals models of the disease
The compounds described throughout this review were used ostensibly due to their metabogenic potential, it is interesting that very few studies have quantified metabolic changes and the downstream effects on skeletal muscle mass
Summary
Characterised as the most severe and aggressive form of all the muscular dystrophies, Duchenne Muscular Dystrophy (DMD) results from a gene mutation at position 21 on the X chromosome and absent expression of the cytoskeletal protein dystrophin [1]. The etiology of the disease is intimately linked to the cytostructural role of dystrophin in providing stability to the sarcolemma, during contraction; regulating the proper expression of components of the sarcolemmal Dystrophin Protein Complex (DPC); and, maintaining appropriate homeostatic transmembrane ion gradients and cell signaling functionality [2,3,4] It is widely reported in the literature that the secondary molecular mechanisms leading to muscle degradation include abnormal calcium (Ca2+) homeostasis [5,6]; Ca2+-induced necrosis [7]; mitochondrial dysfunction and cellular energy perturbations [8,9,10,11,12]; and satellite cell (stem cells that repair damaged skeletal muscle) exhaustion [13,14].
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