Transferência do minigene da distrofina melhora as funções e aumenta a sobrevida de camundongos deficientes em distrofina e utrofina

USA - nesta pesquisa os autores prepararam vetores virais contento o minigene da distrofina, que foram injetados por via sistêmica em camundongos com deficiência de distrofina e utrofina. Os animais apresentaram melhora das alterações patológicas dos músculos, melhora da função muscular e aumento da sobrevida.

O resumo em inglês pode ser lido abaixo:

(Journal of Orthopaedic Research, 27(4): 421-6, 2009) Systemic human minidystrophin gene transfer improves functions and life span of dystrophin and dystrophin/utrophin-deficient mice

Bing Wang , Juan Li , Freddie H. Fu , Xiao Xiao - USA

Duchenne muscular dystrophy (DMD) is the most common and lethal genetic muscle disease, caused by mutations in the dystrophin gene. No efficacious treatment is currently available. Here we report AAV vector systemic delivery and therapeutic benefits of the functional human minidystrophin gene in a severe and more reliable DMD mouse model, the dystrophin/utrophin double deficiency mouse (dys-/-:utrn-/-, dKO). These mice show many pathologic and phenotypic signs typical of DMD in humans including kyphosis and shorter life span, all of which are not seen in the mdx mice due to their utrophin upregulation that partially compensates the loss of dystrophin functions and leads to mild phenotypes. The therapeutic value of this new approach was demonstrated in both mdx and dKO murine models, in which we observed highly efficient minidystrophin gene expression, ameliorated muscle pathologies, improvement in growth and motility, inhibition of spine and limb deformation, and prolongation of life span.

Fonte: http://distrofiamuscular.net/noticias.htm