title: Therapeutic strategies for the treatment of spinal muscular atrophy.
abstract: Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease that results in progressive dysfunction of motor neurons of the anterior horn of the spinal cord. SMA is caused by the loss of full-length protein expression from the survival of motor neuron 1 (SMN1) gene. The disease has a unique genetic profile as it is autosomal recessive for the loss of SMN1, but a nearly identical homolog, SMN2, acts as a disease modifier whose expression is inversely correlated to clinical severity. Targeted therapeutic approaches primarily focus on increasing the levels of full-length SMN protein, through either gene replacement or regulation of SMN2 expression. There is currently no US FDA approved treatment for SMA. This is an exciting time as multiple efforts from academic and industrial laboratories are reaching the preclinical and clinical testing stages.
authors.affiliation: Department of Dematology, Indiana University School of Medicine, Indianapolis, IN 46202, USA. jjcherry@iupui.edu
authors.forename: Jonathan J
authors.initials: JJ
authors.lastname: Cherry
authors.forename: Elliot J
authors.initials: EJ
authors.lastname: Androphy
mesh_terms: D000818:Animals; D005786:Gene Expression Regulation / Q000187:drug effects; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D058990:Molecular Targeted Therapy / Q000379:methods*; D009046:Motor Neurons / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D018696:Neuroprotective Agents / Q000737:chemistry / Q000494:pharmacology / Q000627:therapeutic use; D055532:SMN Complex Proteins / Q000235:genetics*
chemical_list: D018696:Neuroprotective Agents; D055532:SMN Complex Proteins