Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
| العنوان: | Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies |
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| المؤلفون: | Rosanna Cardani, E. Mancinelli, Giovanni Meola, M. Giagnacovo, Valeria A. Sansone |
| المصدر: | European Journal of Histochemistry, Vol 53, Iss 2, Pp e13-e13 (2009) Europe PubMed Central European Journal of Histochemistry : EJH European Journal of Histochemistry, Vol 53, Iss 2, Pp 107-112 (2009) |
| بيانات النشر: | PAGEPress Publications, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Histology, Somatic cell, Biopsy, Biophysics, ribonuclear inclusions, In situ hybridization, Biology, Specimen Handling, Technical Report, Freezing, medicine, Humans, Myotonic Dystrophy, RNA, Messenger, Muscle, Skeletal, myotonic dystrophy type 2, lcsh:QH301-705.5, In Situ Hybridization, Fluorescence, Cell Nucleus, Cryopreservation, DNA Repeat Expansion, Muscle biopsy, medicine.diagnostic_test, RNA-Binding Proteins, Skeletal muscle, Cell Biology, Muscle Fibers, Slow-Twitch, medicine.anatomical_structure, lcsh:Biology (General), Muscle Fibers, Fast-Twitch, Biomarker (medicine), fluorescence, in situ hybridization, Trinucleotide repeat expansion, Biomarkers, defrozen muscle biopsy, Fluorescence in situ hybridization |
| الوصف: | 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. |
| اللغة: | English |
| تدمد: | 2038-8306 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2471700de967b09ef31c91e8a907f412Test http://www.ejh.it/index.php/ejh/article/view/1239Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2471700de967b09ef31c91e8a907f412 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20388306 |
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