| Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins. | |
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MedLine Citation:
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PMID: 8263549 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Characterization with a panel of six antibodies revealed abnormal dystrophin expression in 6 of 20 Duchenne muscular dystrophy (DMD) carriers examined, and in 5 of 12 Becker muscular dystrophy (BMD) carriers examined. The immunocytochemistry of muscle fibres was normal with five of the antibodies in two BMD carriers, but some muscle fibres were negative to the antibody directed against a portion of the dystrophin rod domain. Mosaicism was detected with all six antibodies in the other three BMD (but in only a small number of fibres) and in all DMD carriers muscles. Spectrin, vinculin and talin were immunolocalized in the same muscle specimens in order to assess membrane cytoskeletal integrity and to correlate their expression with that of dystrophin. These proteins, including vinculin, which was previously reported to be reduced in DMD patient muscles, were normally present on the surface of all dystrophin-deficient fibres. Muscle fibre types were characterized using monoclonal antibodies against fetal myosin and adult fast and adult slow myosin heavy chains. In both the DMD and BMD carriers, a significant reduction in type 2B fibres, as well as an increase in type 2C and fetal myosin-containing fibres was found - as has also been reported in DMD patients. Altered dystrophin expression was observed more frequently in type 2 than type 1 fibres. Dystrophin deficiency was found in a high percentage of type 2C fibres as well as in all fibres expressing fetal myosin; this suggests that dystrophin-deficient fibres are more susceptible to degeneration, leading to regeneration. |
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Authors:
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M Mora; L Morandi; A Piccinelli; E Gussoni; M Gebbia; F Blasevich; F Dworzak; F Cornelio |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of neurology Volume: 240 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 1993 Sep |
Date Detail:
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Created Date: 1994-01-27 Completed Date: 1994-01-27 Revised Date: 2012-02-27 |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 455-61 Citation Subset: IM |
Affiliation:
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Department of Neuromuscular Diseases, Carlo Besta Neurological Institute, Milan, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Cytoskeletal Proteins / analysis* Dystrophin / analysis* Heterozygote* Humans Immunohistochemistry Middle Aged Muscular Dystrophies / genetics, metabolism* Myosins / analysis* |
| Grant Support | |
ID/Acronym/Agency:
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20//Telethon; 21//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/Dystrophin; EC 3.6.4.1/Myosins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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