Lipid storage myopathies: Current treatments and future directions. (October 2018)

• Record Type: Journal Article
• Authors: Vasiljevski, Emily R.; Summers, Matthew A.; Little, David G.; Schindeler, Aaron
• Is Part Of: Progress in lipid research. Volume 72(2018)
• Page Start: 1
• Page End: 17
• Publication Date: 2018-10
• Subjects: Lipid -- Metabolism -- Myopathy -- Diet; ABHD5 α/β-Hydrolase Domain-5 -- AC adenylate cyclase -- anti-ACVR2B mouse monoclonal activin receptor type IIB -- ATGL adipose triglyceride lipase -- BEZ bezafibrate -- CACT carnitine translocase -- CD36 cluster of differentiation 36 -- CGI-58 comparative gene identification-58 -- CoA coenzyme A -- CoQ10 co-enzyme Q10 -- CPT I carnitine palmitoyltransferase I -- CPT II carnitine palmitoyltransferase II -- DM dermatomyositis -- EM electron microscopy -- ETF electron transfer flavoprotein -- ETFDH electron transfer flavoprotein dehydrogenase -- ETF-QO electron transfer flavoprotein -ubiquinone oxidoreductase -- FABP4 fatty acid binding protein-4 -- FACS fatty acyl-CoA synthetase -- FADH2 flavin adenine dinucleotide -- FAT fatty acid translocase -- FATP fatty acid transport protein -- GC-MS/MS gas chromatography - tandem mass spectrometry -- HDL-C high-density lipoprotein-cholesterol -- HSL hormone sensitive lipase -- IBM inclusion body myositis -- IMCL intramyocellular lipid -- TCA tricarboxylic acid -- jvs juvenile visceral steatosis -- LSM lipid storage myopathy -- MADD multiple acyl-CoA dehydrogenase deficiency -- MCFA medium chain fatty acids -- MCT medium chain triglycerides -- MGL monoglyceride lipase -- MS/MS tandem mass spectrometry -- NADH nicotinamide adenine dinucleotide -- NaHB sodium-D-L-3-hydroxybutyrate -- NEFA non-esterified fatty acid -- NF1 neurofibromatosis type 1 -- NLSD-I neutral lipid storage disease with ichthyosis -- NLSD-M neutral lipid storage disease with myopathy -- OCTN2 organic cation/carnitine transporter 2 -- PCD primary carnitine deficiency -- PKA protein kinase A -- PM polymyositis -- PNPLA2 Patatin-like Phospholipase Domain Containing 2 -- PPAR peroxisome proliferator-activated receptors -- SLC22A5 Solute Carrier Family 22 Member 5 -- UDCA ursodeoxycholic acid -- VHE valproate hyperammonaemic encephalopathy -- VLDL-C very low-density lipoprotein-cholesterol -- ↑ high/elevated -- ↓ low/reduced; Lipids -- Periodicals; Lipids -- Periodicals; Lipides -- Périodiques; Lipiden; 572.57
• DOI: 10.1016/j.plipres.2018.08.001
• Languages: English
• ISSNs: 0163-7827

Abstract

Abstract: Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. For example, high dosagel -carnitine is an effective intervention for patients with Primary Carnitine Deficiency (PCD). This review discusses the clinical features and management practices of PCD as well as Neutral Lipid Storage Disease (NLSD) and Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). We provide a detailed summary of current clinical management strategies, highlighting issues of high-risk contraindicated treatments with case study examples not previously reviewed. Additionally, we outline current preclinical studies providing disease mechanistic insight. Lastly, we propose that a number of other conditions involving lipid metabolic dysfunction that are not classified as LSMs may share common features. These include Neurofibromatosis Type 1 (NF1) and autoimmune myopathies, including Polymyositis (PM), Dermatomyositis (DM), and Inclusion Body Myositis (IBM).