Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

Desminopathy is a subtype of myofibrillar myopathy caused by desmin mutations and characterized by protein aggregates accumulating in muscle fibers. The aim of this study was to assess the protein composition of these aggregates. Aggregates and intact myofiber sections were obtained from skeletal mu...

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Veröffentlicht in:	Journal of proteomics 2013-09, Vol.90, p.14-27
Hauptverfasser:	Maerkens, A., Kley, R.A., Olivé, M., Theis, V., van der Ven, P.F.M., Reimann, J., Milting, H., Schreiner, A., Uszkoreit, J., Eisenacher, M., Barkovits, K., Güttsches, A.K., Tonillo, J., Kuhlmann, K., Meyer, H.E., Schröder, R., Tegenthoff, M., Fürst, D.O., Müller, T., Goldfarb, L.G., Vorgerd, M., Marcus, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Cardiomyopathies - genetics Cardiomyopathies - metabolism Cardiomyopathies - pathology desmin Desminopathy Female Filaminopathy Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - metabolism Genetic Diseases, Inborn - pathology genome Humans Laser microdissection Male Mass spectrometry Middle Aged monitoring muscle fibers Muscle Fibers, Skeletal - metabolism Muscle Fibers, Skeletal - pathology Muscle Proteins - genetics Muscle Proteins - metabolism muscular diseases Muscular Dystrophies - genetics Muscular Dystrophies - metabolism Muscular Dystrophies - pathology mutants Mutation Myofibrillar myopathy new technology Parallel reaction monitoring patients protein aggregates protein composition proteome Proteome - genetics Proteome - metabolism Proteomics skeletal muscle
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Zusammenfassung:	Desminopathy is a subtype of myofibrillar myopathy caused by desmin mutations and characterized by protein aggregates accumulating in muscle fibers. The aim of this study was to assess the protein composition of these aggregates. Aggregates and intact myofiber sections were obtained from skeletal muscle biopsies of five desminopathy patients by laser microdissection and analyzed by a label-free spectral count-based proteomic approach. We identified 397 proteins with 22 showing significantly higher spectral indices in aggregates (ratio >1.8, p
ISSN:	1874-3919 1876-7737
DOI:	10.1016/j.jprot.2013.04.026