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Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder caused by a CCTG repeat expansion in intron 1 of ZNF9 gene. The size and the somatic instability of DM2 expansion complicate the molecular diagnosis of DM2. In situ hybridization represents a rapid and sensitive method to obtain a de...

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Detalles Bibliográficos
Autores principales: Cardani, R., Mancinelli, E., Giagnacovo, M., Sansone, V., Meola, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167286/
https://www.ncbi.nlm.nih.gov/pubmed/30256867
http://dx.doi.org/10.4081/ejh.2009.e13
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author Cardani, R.
Mancinelli, E.
Giagnacovo, M.
Sansone, V.
Meola, G.
author_facet Cardani, R.
Mancinelli, E.
Giagnacovo, M.
Sansone, V.
Meola, G.
author_sort Cardani, R.
collection PubMed
description Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder caused by a CCTG repeat expansion in intron 1 of ZNF9 gene. The size and the somatic instability of DM2 expansion complicate the molecular diagnosis of DM2. In situ hybridization represents a rapid and sensitive method to obtain a definitive diagnosis in few hours, since it allows the direct visualization of the mutant mRNA foci on skeletal muscle sections. This approach makes the muscle biopsy an important tool for definitive diagnosis of DM2. Consequently, a rapid freezing at ultra cold temperature and a good storage of muscle specimens are essential to avoid morphologic alterations and nucleic acids degradation. However incorrect freezing or thawing may accidentally occur. In this work we report that fluorescence in situ hybridization may be applied on improperly frozen or inappropriately stored muscle biopsies since foci of mutant mRNA are well preserved and can still be detected in muscle sections no more useful for histopathological evaluation.
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spelling pubmed-31672862011-11-09 Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies Cardani, R. Mancinelli, E. Giagnacovo, M. Sansone, V. Meola, G. Eur J Histochem Technical Report Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder caused by a CCTG repeat expansion in intron 1 of ZNF9 gene. The size and the somatic instability of DM2 expansion complicate the molecular diagnosis of DM2. In situ hybridization represents a rapid and sensitive method to obtain a definitive diagnosis in few hours, since it allows the direct visualization of the mutant mRNA foci on skeletal muscle sections. This approach makes the muscle biopsy an important tool for definitive diagnosis of DM2. Consequently, a rapid freezing at ultra cold temperature and a good storage of muscle specimens are essential to avoid morphologic alterations and nucleic acids degradation. However incorrect freezing or thawing may accidentally occur. In this work we report that fluorescence in situ hybridization may be applied on improperly frozen or inappropriately stored muscle biopsies since foci of mutant mRNA are well preserved and can still be detected in muscle sections no more useful for histopathological evaluation. PAGEPress Publications 2009-06-29 /pmc/articles/PMC3167286/ /pubmed/30256867 http://dx.doi.org/10.4081/ejh.2009.e13 Text en ©2009 European Journal of Histochemistry
spellingShingle Technical Report
Cardani, R.
Mancinelli, E.
Giagnacovo, M.
Sansone, V.
Meola, G.
Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
title Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
title_full Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
title_fullStr Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
title_full_unstemmed Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
title_short Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
title_sort ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
topic Technical Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167286/
https://www.ncbi.nlm.nih.gov/pubmed/30256867
http://dx.doi.org/10.4081/ejh.2009.e13
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