Disease progression in myotonic dystrophy type 2: histopathological and molecular parameters from muscle biopsies

M. Giagnacovo; R. Cardani; G. Meola

doi:10.4081/microscopie.2012.4982

Myotonic dystrophy type 2 (DM2) is a dominantly inherited autosomal disease with multisystemic clinical features and is caused by expansion of a CCTG tetranucleotide repeat in the first intron of the zinc finger protein 9 (ZNF9) gene in 3q21. The expanded- CCUG-containing transcripts are retained in cell nuclei, as ribonuclear inclusions, which specifically sequester some splicing factors (as MBNL1), thus causing a general alteration of the pre-mRNA post-transcriptional pathway that is likely responsible for the DM2 multifactorial phenotype. DM2 is a disease of type 2 fibers and it is has been hypothesized that the symptom worsening that occurs with aging may be caused by the progressive accumulation of CCUG-expansion and the sequestration of protein factors. Thus, we carried out a morphometric analysis of ribonuclear inclusions and MBNL1 foci in muscle sections from three DM2 patients who underwent two successive biopsies, and we studied the evolution of the histopathological features. Increase in size and fluorescence intensity has been observed in MBNL1 foci, together with a worsening of muscle histopathological traits, such as type 2 fibers impairment.

Giagnacovo, M., Cardani, R., & Meola, G. (2012). Disease progression in myotonic dystrophy type 2: histopathological and molecular parameters from muscle biopsies. Microscopie, 17(1), 42–49. https://doi.org/10.4081/microscopie.2012.4982

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