Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein

Abstract

Dystrophin immunohistochemical studies in muscle from Duchenne patients (DMD) have shown a population of fibers with partial labelling. In order to determine whether this is related to a cross reaction or to the presence of dystrophin. 22 DMD patients were studied immunohistochemically, through the concomitant use of antibodies from the N-terminal and the C-terminal regions of the protein. In 2, the reaction was negative while in 2 others 17 and 25% of fibers were positive with both antibodies. In the remainder, a population of partially stained fibers was seen: 11 were positive with both antibodies and in 7 only with the N-terminal one. Apparently, there is no correlation between the proportion of positive fibers and clinical progression, or the presence and pattern of DNA deletions in the central part of the gene. These observations led us to suggest that some truncated protein, intermediate synthesis or degradation products of dystrophin are present in muscle from Duchenne patients.