Scientific Articles
Vol. 17 No. 1 (2012)
https://doi.org/10.4081/microscopie.2012.4982

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

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Received: 15 January 2015
Published: 31 March 2012
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myotonic dystrophy type 2-DM2, ribonuclear inclusions, MBNL1 foci, fluorescence microscopy, confocal microscopy.

Authors

M. Giagnacovo
marzia.giagnacovo@unipv.it
Dipartimento di Biologia e Biotecnologie “Lazzaro Spallanzani”, Laboratorio di Biologia cellulare e Neurobiologia, Università di Pavia, Pavia, Italy.
R. Cardani
Laboratorio di Istopatologia Muscolare e Biologia Molecolare, IRCCS Policlinico San Donato, Università degli Studi di Milano, Milano; Fondazione Malattie Miotoniche-FMM Milano, Milano, Italy.
G. Meola
Laboratorio di Istopatologia Muscolare e Biologia Molecolare, IRCCS Policlinico San Donato, Università degli Studi di Milano, Milano; Dipartimento di Neurologia, IRCCS Policlinico San Donato, Università degli Studi di Milano, Milano, Italy.
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.

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Disease progression in myotonic dystrophy type 2: histopathological and molecular parameters from muscle biopsies. (2012). Microscopie, 17(1), 42-49. https://doi.org/10.4081/microscopie.2012.4982

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