Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients

Mutations in the dystrophin gene lead to dystrophin deficiency, which is th e cause of Duchenne muscular dystrophy (DMD). This important discovery more than 10 years ago opened a new field for very productive investigations. H owever, the exact functions of dystrophin are still not fully understood an d the complex process leading to subsequent muscle fiber necrosis has not b een clearly described; hence there has not yet been any marked improvement in patient treatment. To decipher the molecular mechanisms induced by a lac k of dystrophin, we started identifying genes whose expression is altered i n DMD skeletal muscles. The approach was based on differential screening of a human muscle cDNA array. Nine genes were found to be up- or downregulate d. Our results indicate expression alterations in mitochondrial genes, titi n, a muscle transcription factor and three novel genes. First characterizat ions of these novel genes indicated that two of them have striated muscle t issue specificity. (C) 2001 Elsevier Science B.V. All rights reserved.