Abstract
As the specific composition of lipids is essential for the maintenance of membrane integrity, enzyme function, ion channels, and membrane receptors, an alteration in lipid composition or metabolism may be one of the crucial changes occurring during skeletal and cardiac myopathies. Although the inheritance (autosomal dominant, autosomal recessive, and X-linked traits) and underlying/defining mutations causing these myopathies are known, the contribution of lipid homeostasis in the progression of these diseases needs to be established. The purpose of this review is to present the current knowledge relating to lipid changes in inherited skeletal muscle disorders, such as Duchenne/Becker muscular dystrophy, myotonic muscular dystrophy, limb-girdle myopathic dystrophies, desminopathies, rostrocaudal muscular dystrophy, and Dunnigan-type familial lipodystrophy. The lipid modifications in familial hypertrophic and dilated cardiomyopathies, as well as Barth syndrome and several other cardiac disorders associated with abnormal lipid storage, are discussed. Information on lipid alterations occurring in these myopathies will aid in the design of improved methods of screening and therapy in children and young adults with or without a family history of genetic diseases.
Highlights
As the specific composition of lipids is essential for the maintenance of membrane integrity, enzyme function, ion channels, and membrane receptors, an alteration in lipid composition or metabolism may be one of the crucial changes occurring during skeletal and cardiac myopathies
A significant number of lipid composition and metabolic alterations have been observed in skeletal muscle disorders, such as Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), myotonic muscular dystrophies, desminopathies, LGMDS, rmd, and fibroblasts: ↑ lipid accumulation and TG area (FPLD)
A large gap still exists between the molecular pathology of these muscular dystrophies and downstream biomechanical events regulating lipid metabolism during the progression of disease
Summary
Cell types that undergo high levels of fatty acid metabolism are able to transport fatty acids at a higher rate than cell types with lower lipid metabolism [22, 23]. The precise mechanism of long-chain fatty acid uptake into myocytes is still rather uncertain and is split between two prevailing hypotheses: passive diffusion- and protein-specific-mediated transport [22, 26,27,28,29,30,31] (Fig. 2). It has been proposed that long-chain fatty acid transport at the plasma membrane occurs by dissociation of the fatty acid from plasma albumin, delivery of the free fatty acid to the membrane, its transfer across the membrane to the cytoplasm, and its intracellular metabolism [32].
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