RESUMO
OBJECTIVE: To compare the efficiency of intra-arterial, intraportal, and intravenous administration of cationic lipid emulsion/DNA complex, as used for gene transfer to rat liver. MATERIALS AND METHODS: DNA-carrier complex for the in-vivo experiment was prepared by mixing DNA and a cationic lipid emulsion. According to the administration route used (intra-arterial, intraportal, or intravenous), the animals were assigned to one of three groups. The heart, lung, liver, spleen and kidneys were removed and assayed for total protein and luciferase concentration. RESULTS: The cationic lipid emulsion/DNA complex used successfully transfected the various organs via the different administration routes employed. Luciferase activity in each organ of untreated animals was negligible. Liver luciferase values were significantly higher in the groups in which intra-arterial or intraportal administration was used. CONCLUSION: The intra-arterial or intraportal administration of cationic lipid emulsion/DNA complex is superior to intravenous administration and allows selective gene transfer to the liver.
Assuntos
Ratos , Animais , Cateterismo , Cátions/administração & dosagem , Estudo Comparativo , DNA/administração & dosagem , Emulsões/administração & dosagem , Técnicas de Transferência de Genes , Injeções Intra-Arteriais , Injeções Intravenosas , Lipídeos/administração & dosagem , Fígado/metabolismo , Ratos Sprague-DawleyRESUMO
Fibrodysplasia ossificans progressiva (FOP) is a rare connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae and skeletal muscles. We document the radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP.