Abstract
OPINION article Front. Aging Neurosci., 30 July 2014Sec. Neuroinflammation and Neuropathy Volume 6 - 2014 | https://doi.org/10.3389/fnagi.2014.00196
Highlights
In recent years, histochemistry at light and electron microscopy has increasingly been applied to investigate basic mechanisms of skeletal muscle diseases; in particular, the study in situ of skeletal muscle cell nuclei proved to be crucial for elucidating some pathogenetic mechanisms of skeletal muscle wasting in myotonic dystrophy (DM) and sarcopenia
DM type 1 (DM1) is caused by an expansion of a (CTG)n nucleotide sequences in the 3 untranslated region (3 -UTR) of the dystrophy myotonic protein kinase (DMPK) gene, located on chromosome 19 (Brook et al, 1992; Cardani et al, 2006; Bogolyubov et al, 2009), whereas in DM type 2 (DM2) a (CCTG)n repeat expansion occurs in intron 1 of the cellular nucleic acid-binding protein (CNBP) gene (Cmarko et al, 1999) on chromosome 3 (Cruz-Jentoft et al, 2010)
We demonstrated that many molecular factors responsible for pre-mRNA transcription and maturation undergo accumulation and altered intranuclear distribution in both DM1 and DM2 (Malatesta and Meola, 2010); as a consequence, the function of the whole splicing machinery would be affected and the molecular trafficking slowed down, reducing protein synthesis in DM myocytes (Mankodi et al, 2003; Malatesta et al, 2009)
Summary
Histochemistry at light and electron microscopy has increasingly been applied to investigate basic mechanisms of skeletal muscle diseases; in particular, the study in situ of skeletal muscle cell nuclei proved to be crucial for elucidating some pathogenetic mechanisms of skeletal muscle wasting in myotonic dystrophy (DM) and sarcopenia.
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