Muscular dystrophy into the new millennium

Abstract

Since the identification of the gene for Duchenne muscular dystrophy and its protein product some 15 years ago, the basic defects in all the commoner forms of dystrophy have now been identified. It is thus possible, on the basis of this information, to make a precise diagnosis in an affected individual and to offer accurate genetic counselling and prenatal diagnosis. Now newer technologies are being applied to the investigation of these disorders. These include studies of single nucleotide polymorphisms, microarray analysis and expression profiling, the yeast two-hybrid assay, and proteomics. A great deal of new information is emerging in this way which will hopefully help us to understand the causes of inter-familial and intra-familial variation and particularly pathogenesis, a detailed understanding of which could be the first step in finding effective treatments.