Dysregulation of calcium homeostasis in muscular dystrophies

Ainara Vallejo-Illarramendi; Ivan Toral-Ojeda; Garazi Aldanondo; Adolfo López de Munain

doi:10.1017/erm.2014.17

Dysregulation of calcium homeostasis in muscular dystrophies

Published online by Cambridge University Press: 08 October 2014

Ainara Vallejo-Illarramendi ,

Ivan Toral-Ojeda ,

Garazi Aldanondo and

Adolfo López de Munain

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Ainara Vallejo-Illarramendi*: Affiliation:
Neuroscience Area, Biodonostia Institute, San Sebastian, Spain Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, San Sebastian, Spain Euskampus, University of the Basque Country (UPV-EHU), San Sebastian, Spain
Ivan Toral-Ojeda: Affiliation:
Neuroscience Area, Biodonostia Institute, San Sebastian, Spain Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, San Sebastian, Spain
Garazi Aldanondo: Affiliation:
Neuroscience Area, Biodonostia Institute, San Sebastian, Spain
Adolfo López de Munain: Affiliation:
Neuroscience Area, Biodonostia Institute, San Sebastian, Spain Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, San Sebastian, Spain Department of Neuroscience, University of the Basque Country (UPV-EHU), San Sebastian, Spain Department of Neurology, Donostia Hospital, San Sebastian, Spain
*: *Corresponding author: Ainara Vallejo-Illarramendi, Instituto Biodonostia, Po Dr Begiristain s/n, 20014 San Sebastian, Spain. E-mail: [email protected]

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Abstract

Muscular dystrophies are a group of diseases characterised by the primary wasting of skeletal muscle, which compromises patient mobility and in the most severe cases originate a complete paralysis and premature death. Existing evidence implicates calcium dysregulation as an underlying crucial event in the pathophysiology of several muscular dystrophies, such as dystrophinopathies, calpainopathies or myotonic dystrophy among others. Duchenne muscular dystrophy is the most frequent myopathy in childhood, and calpainopathy or LGMD2A is the most common form of limb-girdle muscular dystrophy, whereas myotonic dystrophy is the most frequent inherited muscle disease worldwide. In this review, we summarise recent advances in our understanding of calcium ion cycling through the sarcolemma, the sarcoplasmic reticulum and mitochondria, and its involvement in the pathogenesis of these dystrophies. We also discuss some of the clinical implications of recent findings regarding Ca2+ handling as well as novel approaches to treat muscular dystrophies targeting Ca2+ regulatory proteins.

Type: Review Article
Information: Expert Reviews in Molecular Medicine , Volume 16 , 2014 , e16

DOI: https://doi.org/10.1017/erm.2014.17 [Opens in a new window]
Copyright: Copyright © Cambridge University Press 2014

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Dysregulation of calcium homeostasis in muscular dystrophies

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Dysregulation of calcium homeostasis in muscular dystrophies

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