A MODEL FOR THE PHARMACOLOGICAL GENE THERAPY OF ADRENOLEUKODYSTROPHY

Adrenoleukodystrophy is a genetically determined disorder due to the loss of function of a gene located within the X-chromosome. The available therapies are very limited in their action and do not involve patients with an early onset of the pathology. At present gene therapy appears to be an unlikely solution. More promising expectations appear to come from the pharmacological treatments devoted to prevent the progression and to limit the damages provoked by the pathology, by increasing the synthesis of proteins displaying functional homology with the one lacking in the patients. Even though it has been defined the molecular target, appropriate drugs for the pharmacological therapy have not yet been identified. Our project aim to the generation of a genetically modified mouse for the identification of such novel synthetic compounds. This animal model will be a powerful tool for the selection of highly active and very specific molecules targeted only to the organs interested by the pathology. Furthermore,we believe that the transgenic mouse here proposed will be the founder of a series of animal models devoted to the identification of safer drugs active in other non-hereditary pathologies (i.e. diabetes or cardiovascular disorders).