Open AccessMolecular, genetic and stem cell‐mediated therapeutic strategies for spinal muscular atrophy ( SMA )
Author(s) -
Zanetta Chiara,
Riboldi Giulietta,
Nizzardo Monica,
Simone Chiara,
Faravelli Irene,
Bresolin Nereo,
Comi Giacomo P.,
Corti Stefania
Publication year - 2014
Publication title -
journal of cellular and molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.44
H-Index - 130
eISSN - 1582-4934
pISSN - 1582-1838
DOI - 10.1111/jcmm.12224
Subject(s) - spinal muscular atrophy , sma* , motor neuron , neuroscience , spinal cord , disease , biology , smn1 , genetic enhancement , medicine , bioinformatics , genetics , gene , pathology , mathematics , combinatorics
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 ( SMN 1 ) 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 .