THE CONCOMITANT USE OF DYSTROPHIN AND UTROPHIN DYSTROPHIN RELATED PROTEIN ANTIBODIES TO REDUCE MISDIAGNOSIS OF DUCHENNE/BECKER-MUSCULAR-DYSTROPHY/

Antibodies to dystrophin have increased accuracy in the diagnosis of D uchenne/Becker muscular dystrophy (D/BMD). Both typical and 'atypical' presentations of this disease can be confirmed by demonstrating quali tative and quantitative defects in the expression of dystrophin protei n. However, owing to the propensity for dystrophin degradation in vitr o, caution needs to be applied while performing and interpreting antib ody-based dystrophin analysis. Here we identify two cases where in vit ro protein degradation caused diagnostic confusion. We demonstrate the use of utrophin/dystrophin related protein (DRP) as sensitive control for sample degradation, since it is more labile than dystrophin. We s uggest that the concomitant or sequential usage of antibodies specific for dystrophin along with utrophin/DRP can help reduce the misdiagnos is of D/BMD. (C) 1997 Academic Press.