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Absence of upregulated genes associated with protein accumulations in desmin myopathy
Author(s) -
Raju Raghavan,
Dalakas Marinos C.
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20680
Subject(s) - desmin , myopathy , downregulation and upregulation , gene , biology , genetics , medicine , pathology , immunohistochemistry , vimentin
In desmin myopathy but not hereditary inclusion‐body myopathy (hIBM), there is accumulation of myofibrillar proteins including desmin, myotilin, dystrophin, gelsolin, actin, and CDC kinase. To assess the cause of protein excess, we studied the genes coding the accumulated proteins in desmin myopathy, hIBM, and controls. No differences were found among them. In desmin myopathy, protein accumulation is not due to upregulation of genes triggered by mutant desmin, but rather to posttranslational disassembly of intermediate filaments. Muscle Nerve, 2006