BACKGROUND Desmin, a protein of 52 kDa has been identified as the constitutive subunit of class-III intermediate filaments in all muscle tissues, cardiac, skeletal, and smooth. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures it is encoded by a single copy gene. It is one of earliest known myogenic markers both in heart and in somites. During development Desmin expression precedes all the other muscle-specific structural genes and the myogenic HLH transcription factors myoD, Myogenin, and MRF4, with the exception of Myf-5, suggesting that it might play some modulating role in myogenic commitment and differentiation.1 In addition, Desmin might be involved in signal transduction and transport processes between the cell surface and the nucleus, which is supported by several pieces of recent information, including its position in the cell where it interlinks the sarcolemma with the nuclear envelope by specifically binding to Ankyrin, other components of the Costameres, and Lamin B, respectively. Lamin B binds to the nuclear matrix-associated regions (MARs) which can activate gene transcription by binding to the nuclear matrix.2 Furthermore, it was reported that Lamin A and Desmin can also specifically bind MARS in vitro. On the other hand, intermediate filaments serve both as sites of attachment as well as major substrates of several kinases that seem to be involved in signal transduction. In addition, Desmin may be important in mitochondria function. When Desmin is not functioning properly there is improper mitochondrial distribution, number, morphology and function.3 Mutations in this gene are associated with Desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.4
1. Weitzer, G. et al: Dev. Biol. 172:422-439, 1995
2. Costa, M.L. et al: Braz. J. Med. Biol. Res. 37:1819-30, 2004
3. Bar, H. et al: J. Struct. Biol. 148:137-52, 2004
4. Goldfarb, L.G. et al: Brain 127:723-34, 2004
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