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)

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.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2471700de967b09ef31c91e8a907f412Test
http://www.ejh.it/index.php/ejh/article/view/1239Test

المؤلفون: Valeria A. Sansone, E. Mancinelli, G. Rotondo, Giovanni Meola

المصدر: European Journal of Histochemistry, Vol 47, Iss 1 (2009)
Europe PubMed Central

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Histology, Biopsy, Biophysics, Muscle histopathology, Settore BIO/09 - Fisiologia, Ion Channels, Hypokalemic periodic paralysis, medicine, Humans, Point Mutation, Hyperkalemic periodic paralysis, Muscle, Skeletal, lcsh:QH301-705.5, Cells, Cultured, Aged, Potassium-aggravated myotonia, CLCN1, biology, Histocytochemistry, business.industry, Myotonia congenita, Muscle histochemistry, Skeletal muscle, Periodic paralysis, Cell Biology, Middle Aged, medicine.disease, Cell cultures, Hereditary channelopathies, Muscle biopsy, Voltage-gated ion channels, medicine.anatomical_structure, lcsh:Biology (General), Potassium Channels, Voltage-Gated, Paramyotonia congenita, biology.protein, Female, Settore MED/26 - Neurologia, business, Ion Channel Gating, Metabolism, Inborn Errors

الوصف: Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage-gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2+ channel give rise to hypokalemic periodic paralysis and malignant hyperthermia. Point mutations in the human skeletal chloride channel CIC-1 give rise to myotonia congenita. Point mutations in the inwardly rectifying K+ channel Kir2.1 give rise to a syndrome characterized by periodic paralysis, severe cardiac arrhythmias and skeletal alterations (Andersen's syndrome). Involvement of the same ion channel can thus give rise to different phenotypes. In addition, the same mutation can lead to different phenotypes or similar phenotypes can be caused by different mutations on the same or on different channel subtypes. Bearing in mind, the complexity of this field, the growing number of potential channelopathies (such as the myotonic dystrophies), and the time and cost of the genetic procedures, before a biomolecular approach is addressed, it is mandatory to apply strict diagnostic protocols to screen the patients. In this study we propose a protocol to be applied in the diagnosis of the hereditary muscle channelopathies and we demonstrate that muscle biopsy studies and muscle cell cultures may significantly contribute towards the correct diagnosis of the channel involved. DNA-based diagnosis is now a reality for many of the channelopathies. This has obvious genetic counselling, prognostic and therapeutic implications.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00889c6c1554a49c477543f98c499d19Test
https://www.ejh.it/index.php/ejh/article/view/803Test