TITLE

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies

AUTHOR(S)
Effat, Laila K.; El-Harouni, Ashraf A.; Amr, Khalda S.; El-Minisi, Tarik I.; Abdel Meguid, Nagwa; El-Awady, Mostafa
PUB. DATE
September 2000
SOURCE
Disease Markers;2000, Vol. 16 Issue 3/4, p125
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phosphokinase enzyme (CPK) levels and DNA analysis. Multiplex PCR using 18 pairs of specific primers were used for screening of deletion mutations within the dystrophin gene. A frequency of 55% among the families. Sixty per cent of detected deletions involved multiple exons spanning the major or the minor hot spot of the dystrophin gene. The remainder 40% which mainly involved exon 45. Comparing these findings with frequencies of other countries it was found that our figures fall within the reported range of 40%- distribution of deletions in our study and other different studies was variable and specific ethnic differences do not apparently account for specific deletions. In addition this study concluded that employment of the 18 exon analysis is a cost effective and a highly accurate (97% to launch a nationwide program.
ACCESSION #
6375195

 

Related Articles

  • Gene Therapy for Muscular Dystrophies: Current Status and Future Prospects. Takeda, S.; Miyagoe-Suzuki, Y. // BioDrugs;2001, Vol. 15 Issue 10, p635 

    Since the identification in 1987 of the gene for Duchenne muscular dystrophy (DMD), research on the molecular pathogenesis of muscular dystrophy has progressed extensively. In particular, discovery of the DMD gene product, dystrophin, led to the identification of dystrophin-associated proteins...

  • Delivery of Igf_I and dystrophin to dystrophic mdx muscle  // Molecular Therapy;May2004 Supplement 1, Vol. 9, p93 

    An abstract of the article "Delivery of Igf-I and Dystrophin to Dystrophic mdx Muscle," by Simone Abmayr, Paul Gregorevic, James M. Allen, Shanna M. Sawatzki and Jeffrey S. Chamberlain is presented.

  • Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Falzarano, Maria Sofia; Scotton, Chiara; Passarelli, Chiara; Ferlini, Alessandra // Molecules;2015, Vol. 20 Issue 10, p18168 

    Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The...

  • CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy. Pinto-Mariz, Fernanda; Rodrigues Carvalho, Luciana; De Queiroz Campos Araujo, Alexandra Prufer; De Mello, Wallace; Gonçalves Ribeiro, Márcia; Soares Alves Cunha, Maria Do Carmo; Cabello, Pedro Hernan; Riederer, Ingo; Negroni, Elisa; Desguerre, Isabelle; Veras, Mariana; Yada, Erica; Allenbach, Yves; Benveniste, Olivier; Voit, Thomas; Mouly, Vincent; Silva-Barbosa, Suse Dayse; Butler-Browne, Gillian; Savino, Wilson // Skeletal Muscle;12/10/2015, Vol. 5, p1 

    Background: Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene. The immune inflammatory response also contributes to disease progression in DMD patients. In a previous study, we demonstrated higher levels of circulating CD49dhi and CD49ehi T cells in DMD patients...

  • Effects of irradiating adult mdx mice before full-length dystrophin cDNA transfer on host anti-dystrophin immunity. Eghtesad, S.; Zheng, H.; Nakai, H.; Epperly, M. W.; Clemens, P. R. // Gene Therapy;Sep2010, Vol. 17 Issue 9, p1181 

    Duchenne muscular dystrophy is a fatal, genetic disorder in which dystrophin-deficient muscle progressively degenerates, for which dystrophin gene transfer could provide effective treatment. The host immune response to dystrophin, however, is an obstacle to therapeutic gene expression....

  • Tranilast administration reduces fibrosis and improves fatigue resistance in muscles of mdx dystrophic mice. Swiderski, Kristy; Todorov, Michelle; Gehrig, Stefan M.; Naim, Timur; Chee, Annabel; Stapleton, David I.; Koopman, René; Lynch, Gordon S. // Fibrogenesis & Tissue Repair; 

    Background Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disorder caused by mutations in the dystrophin gene that result in the absence of the membranestabilising protein dystrophin. Dystrophic muscle fibres are susceptible to injury and degeneration, and impaired...

  • Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. McClorey, G.; Moulton, H. M.; Iversen, P. L.; Fletcher, S.; Wilton, S. D. // Gene Therapy;Oct2006, Vol. 13 Issue 19, p1373 

    Manipulation of pre-mRNA splicing by antisense oligonucleotides (AOs) offers considerable potential for a number of genetic disorders. One of these is Duchenne muscular dystrophy (DMD), where mutations in the dystrophin gene typically result in premature termination of translation that causes a...

  • Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. Kekou, Kiriaki; Mavrou, Ariadni; Florentin, Lina; Youroukos, Sotiris; Zafiriou, Dimitrios I; Skouteli, Helen N; Metaxotou, Catherine // European Journal of Human Genetics;Mar1999, Vol. 7 Issue 2, p179 

    The distal part of the human dystrophin gene is characterised by particular features and seems to play an important functional role. Additionally in recent years several data have implicated minor mutations in this gene region in some patients with mental retardation (MR). In order to screen for...

  • Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons. Aartsma-Rus, Annemieke; Kaman, Wendy E.; Weij, Rudie; den Dunnen, Johan T.; van Ommen, Gert-Jan. B.; van Deutekom, Judith C. T. // Molecular Therapy;Sep2006, Vol. 14 Issue 3, p401 

    Through antisense-induced single-, double-, and multiexon skipping, we have previously demonstrated restoration of dystrophin expression in Duchenne muscular dystrophy (DMD) patient-derived muscle cells in vitro. In this study we further explored the frontiers of this strategy by using specific...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics