Duchenne muscular dystrophy pathophysiology

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
Y PéréonA Magot

Abstract

Dystrophin is a large cytoskeletal protein located at the plasma membrane in both muscle and non-muscle tissues, which mediates interactions between the cytoskeleton, cell membrane, and extracellular matrix. Dystrophin is a key component of multiprotein complexes (dystrophin- associated glycoprotein complex, or DGC). It is also involved in many intracellular cascades affecting membrane proteins such as calcium channels, or various signalisation pathways. In Duchenne Muscular Dystrophy, both dystrophin and DGC proteins are missing. This induces excessive membrane fragility and permeability, dysregulation of calcium homeostasis, oxidative damage, which in turn favour muscle cell necrosis. The latter is initially followed by regeneration. With age, the regenerative capacity of the muscles appears to be exhausted and muscle fibres are gradually replaced by connective and adipose tissue.

References

Aug 1, 1993·The Journal of Cell Biology·J M Ervasti, K P Campbell
Apr 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·B J PetrofH L Sweeney
Nov 23, 2000·Proceedings of the National Academy of Sciences of the United States of America·M SanderR G Victor
Mar 28, 2002·Physiological Reviews·Derek J BlakeKay E Davies
Sep 18, 2002·The Journal of Cell Biology·Clarisse VandebrouckPhilippe Gailly
Dec 13, 2006·Pediatric Neurology·Nicolas Deconinck, Bernard Dan
Nov 6, 2007·Current Opinion in Immunology·Virginie PétrilliJürg Tschopp
May 18, 2010·Biochimica Et Biophysica Acta·Elisabeth Le RumeurJean-François Hubert
Nov 19, 2010·The International Journal of Biochemistry & Cell Biology·David G Allen, Nicholas P Whitehead
Feb 22, 2012·Current Opinion in Pharmacology·Philippe Gailly
Nov 28, 2012·PloS One·Xiaoli ZhaoNoah Weisleder
Oct 9, 2014·Expert Reviews in Molecular Medicine·Ainara Vallejo-IllarramendiAdolfo López de Munain
Oct 15, 2014·The Journal of Cell Biology·Sherry DadgarEric P Hoffman
Aug 8, 2015·Science Translational Medicine·Amy S RosenbergJanet Woodcock

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Citations

Jan 30, 2018·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·M G SokolovaA V Gavrichenko

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