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Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy

Authors
 Sang-Jun Na  ;  Won-Joo Kim  ;  Seung Min Kim  ;  Kee Ook Lee  ;  Bora Yoon  ;  Young-Chul Choi 
Citation
 Journal of Clinical Neuroscience, Vol.20(8) : 1099-1105, 2013 
Journal Title
 Journal of Clinical Neuroscience 
ISSN
 0967-5868 
Issue Date
2013
Abstract
Dystrophin-deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy, with variable clinical phenotypes ranging from the severe Duchenne (DMD) to the milder Becker (BMD) forms. In this study, we investigated the relationship between clinical characteristics, findings at immunohistochemistry (IHC) and Western blot, and the pattern of exon deletions in 24 male patients with dystrophinopathies. We retrospectively reviewed findings from clinical and laboratory examinations, IHC for dystrophin of muscle biopsy tissue, Western blot analysis, and multiplex polymerase chain reaction (PCR) examination of genomic DNA. All tests were performed in every patient. PCR examination revealed exon deletions in 13 patients (54.2%). At Western blot analysis, 15 patients (62.5%) were negative at all three dystrophin domains. Most of these patients had a clinical presentation consistent with the DMD phenotype. Nine (37.5%) others were weakly positive at one or more domains. Most of these patients presented clinically as BMD phenotype. One patient whose clinical presentation was consistent with BMD phenotype had normal findings at IHC and was weakly positive at all three domains on Western blot analysis; however, with the exception of this patient, the findings at IHC and Western blot were consistent for individual patients. Based on these findings, we conclude that Western blot analysis appears useful for confirmation of dystrophinopathy in BMD patients with normal staining on IHC. Exon deletion analysis by multiplex PCR using peripheral blood is also a simple and useful test for the diagnosis of dystrophinopathy, although it has limited sensitivity.
Full Text
http://www.sciencedirect.com/science/article/pii/S0967586812006200
DOI
10.1016/j.jocn.2012.09.021
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
김원주(Kim, Won Joo) ORCID logo https://orcid.org/0000-0002-5850-010X
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87292
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