Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders
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 inher...
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| Format: | Article |
| Language: | English |
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Elsevier
2012-01-01
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| Series: | Journal of Lipid Research |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520407953 |
| _version_ | 1824024889477038080 |
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| author | Harjot K. Saini-Chohan Ryan W. Mitchell Frédéric M. Vaz Teresa Zelinski Grant M. Hatch |
| author_facet | Harjot K. Saini-Chohan Ryan W. Mitchell Frédéric M. Vaz Teresa Zelinski Grant M. Hatch |
| author_sort | Harjot K. Saini-Chohan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T09:53:50Z |
| format | Article |
| id | doaj.art-790365bed8d7416f866dc092d1647520 |
| institution | Directory Open Access Journal |
| issn | 0022-2275 |
| language | English |
| last_indexed | 2024-12-19T09:53:50Z |
| publishDate | 2012-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Lipid Research |
| spelling | doaj.art-790365bed8d7416f866dc092d16475202022-12-21T20:26:54ZengElsevierJournal of Lipid Research0022-22752012-01-01531427Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disordersHarjot K. Saini-Chohan0Ryan W. Mitchell1Frédéric M. Vaz2Teresa Zelinski3Grant M. Hatch4Department of Pharmacology and Therapeutics and Academic Medical Center, Amsterdam, The NetherlandsDepartment of Pharmacology and Therapeutics and Academic Medical Center, Amsterdam, The NetherlandsDepartment of Clinical Chemistry and Pediatrics, Academic Medical Center, Amsterdam, The Netherlands; andDepartment of Pediatrics and Child Health and University of Manitoba, Winnipeg, Canada; Department of Biochemistry and Medical Genetics, Center for Research and Treatment of Atherosclerosis, Manitoba Institute of Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, CanadaTo whom correspondence should be addressed.; Department of Pharmacology and Therapeutics and Academic Medical Center, Amsterdam, The Netherlands; Department of Biochemistry and Medical Genetics, Center for Research and Treatment of Atherosclerosis, Manitoba Institute of Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Canada; To whom correspondence should be addressed.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.http://www.sciencedirect.com/science/article/pii/S0022227520407953phospholipidsDuchenne muscular dystrophymyotonic muscular dystrophylimb-girdle myopathic dystrophiesBarth syndromecardiomyopathy |
| spellingShingle | Harjot K. Saini-Chohan Ryan W. Mitchell Frédéric M. Vaz Teresa Zelinski Grant M. Hatch Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders Journal of Lipid Research phospholipids Duchenne muscular dystrophy myotonic muscular dystrophy limb-girdle myopathic dystrophies Barth syndrome cardiomyopathy |
| title | Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders |
| title_full | Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders |
| title_fullStr | Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders |
| title_full_unstemmed | Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders |
| title_short | Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders |
| title_sort | delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders |
| topic | phospholipids Duchenne muscular dystrophy myotonic muscular dystrophy limb-girdle myopathic dystrophies Barth syndrome cardiomyopathy |
| url | http://www.sciencedirect.com/science/article/pii/S0022227520407953 |
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