Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies
Author
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Cárdenas, Ana María
Author
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González Jamett, Arlek M.
Author
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Cea Pisani, Luis Andrés
Author
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Bevilacqua, Jorge
Author
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Caviedes Fernández, Pablo
Admission date
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2017-03-02T13:36:25Z
Available date
dc.date.available
2017-03-02T13:36:25Z
Publication date
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2016
Cita de ítem
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Experimental Neurology. Volumen: 283 Páginas: 246-254 Subdivisión: A
es_ES
Identifier
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10.1016/j.expneurol.2016.06.026
Identifier
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https://repositorio.uchile.cl/handle/2250/142922
Abstract
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Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients or dysferlin-deficient mice point out its importance in membrane repair. However, expression of dysferlin homologous proteins that restore sarcolemma repair function in dysferlinopathy animal models fail to arrest muscle wasting, therefore suggesting that dysferlin plays other critical roles in muscle function. In the present review, we discuss dysferlin functions in the skeletal muscle, as well as pathological mechanisms related to dysferlin mutations. Particular focus is presented related the effect of dysferlin on cell membrane related function, which affect its repair, vesicle trafficking, as well as Ca2+ homeostasis. Such mechanisms could provide accessible targets for pharmacological therapies.