Molecular, genetic and stem cell‐mediated therapeutic strategies for spinal muscular atrophy (SMA)

Journal of Cellular and Molecular Medicine

Chiara Zanetta¹  Giulietta Riboldi¹  Monica Nizzardo¹  Chiara Simone¹  Irene Faravelli¹  Nereo Bresolin¹  Giacomo P. Comi¹ 

[1] Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

关键词: spinal muscular atrophy;    molecular therapy;    antisense oligonucleotides;    morpholino;    gene therapy;    stem‐cell therapy;    induced pluripotent stem cells;   

DOI  :  10.1111/jcmm.12224

来源: Wiley

【 摘 要 】

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no current treatment other than supportive care, although the past decade has seen a striking advancement in understanding of both SMA genetics and molecular mechanisms. A variety of disease modifying interventions are rapidly bridging the translational gap from the laboratory to clinical trials. In this review, we would like to outline the most interesting therapeutic strategies that are currently developing, which are represented by molecular, gene and stem cell-mediated approaches for the treatment of SMA.

【 授权许可】

CC BY   
© 2014 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.