Proteomic Profiling of the Dystrophin-Deficient Brain

Part of the Methods in Molecular Biology book series (MIMB, volume 1687)


Duchenne muscular dystrophy is a highly progressive neuromuscular disorder caused by primary abnormalities in the Dmd gene encoding the membrane cytoskeletal protein dystrophin. Dystrophinopathies are multi-systems disorders that are characterized by severe skeletal muscle wasting, with loss of independent ambulation in the early teenage years, followed by cardio-respiratory complications and premature death. Nonprogressive cognitive impairments are estimated to affect approximately one-third of dystrophic children. To identify the molecular mechanisms behind the impaired brain function in dystrophinopathy, liquid chromatography-based mass spectrometry offers an unbiased and technology-driven approach. In this chapter, we give a detailed description of a label-free mass spectrometric method to investigate proteome-wide changes in the dystrophin-deficient brain from a genetic mouse model of Duchenne muscular dystrophy.

Key words

Cognitive impairment Duchenne muscular dystrophy Dystrophinopathy Mass spectrometry Neuroproteomics 


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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Department of BiologyMaynooth University, National University of Ireland MaynoothMaynoothIreland

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