Résumé :
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Communication n° 434 Introduction : Duchenne Muscular Dystrophy (DMD)is one of the most lethal forms of muscular dystrophies. In Iran, despite the high frequency of the disease, there was no laboratory facilities to detect the disease till thirteen years ago. In 1998, molecular diagnostic established for the first time but it could detect only sixty percent of clinically diagnosed DMD patients.Considering the high sensitivity of immunohistochemistry (IHC) for muscle biopsies (hundred percent),the importance of performing the IHC technique appeared more important for the patients, so in late 2004 after two years of reseach collaboration between Iran and France, the technique established and our study has started for the screening of dystrophin on muscle biopsies of non deletional DMD patients. Objectives : Establishment of dystrophin immunohistochemistry for the first time in Iran. -Make a definite diagnosis for the clinically suspected DMD patients in order to genetic counselling, clinical trials and possible new therapeutic methodes. Methods : Twenty of patients were selected through a retrospective study by referring to medical files of the referred patients to Genetics Research Center.All of the patients have been tested for DNA analysis focusing on detection of dystrophin gene located on Xp21;and the reults were negative.Muscle biopsy was performed .The tissue was freezed in isopanthane(chilled in -70)immediately,and the sections were prepared by cryotome(Leica 1850).Three sections were stained by dysrophin 1,2&3 besides controls. Results : Till now ,four patients were examined and two from all four patients revealed lack of dystrophin. Conclusion : DMD is one of the major causes of physical disabilities in Iran.It is estimated to be the most common neuromuscular disorders,but the laboratory methods for the diagnosis of the disease are very young in Iran.The study confirms that it is necessary to perform IHC on muscle specimens especially for non deletional DMD patients.
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