Author/Editor     Meznarič-Petruša, Mija; Peterlin, Borut; Župančič, Neža; Zidar, Janez; Frelih, Jana; Neubauer, David
Title     Immunohistochemical and immunochemical analysis of dystrophin in Duchenne and Becker muscular dystrophy patients
Type     članek
Source     Acta Cardiol
Vol. and No.     Letnik 8
Publication year     1996
Volume     str. 83-92
Language     eng
Abstract     At the protein level DMD is defined by a marked dystrophin deficiency, and BMD by abnormal molecular weight of dystrophin and/or reduction in dystrophin abundance. The classical clinical criterion of age at the onset of wheelchair dependence was used for classifying patients as DMD, intermediate DMD/BMD and BMD. The main purpose of this study was to investigate how the results of dystrophin analysis are related with the clinical classification. Antibodies against N-terminus, rod domain and C-terminus of dystrophin were used for immunohistochemical analysis, and antibodies against C-terminus for immunochemical analysis of dystrophin. In this study 3 DMD, 3 intermediate DMD/BMD and 3 BMD patients were analysed by dystrophin analysis. Seven patients were too young to be classified clinically. For all DMD cases the diagnosis was established by immunohistochemical analysis of dystrophin. For the diagnosis of BMD the immunoblot was required in those cases, where immunohistochemical analysis revealed only mild abnormalities. The preservation of C-terminus of dystrophin was related to BMD in 3 patients. The absence of C-terminus of dystrophin was in 3/6 patients who were wheelchair bound related to DMD phenotype, but in 3/6 patients who were wheelchair bound to intermediate DMD/BMD. In prognosis for 7 patients with the absent C-terminus, who were too young to be classified clinically, we presume that same of them might be ambulatory upto the age of 15 yeras. In 2/3 intermediate DMD/BMD patients a peculiar type of immunohistochemical pattern was detected: the absent C-terminus was found in combination with immunoreactivity to rod domain and a faint immunoreactivity to the N-terminus. (Abstract truncated at 2000 characters.)
Descriptors     MUSCULAR DYSTROPHY
DYSTROPHIN
ELECTROMYOGRAPHY
IMMUNOHISTOCHEMISTRY
CREATINE KINASE
MUSCLE FIBERS
IMMUNOBLOTTING