Spinal Muscular Atrophy and the Possible Use of Stem Cells as Therapy

Pinal muscular atrophy (SMA) is a rare, inherited, recessive genetic disorder that causes deterioration in the motor neurons in the anterior horn of the spinal cord in the CNS. This deterioration results in progressive weakness of all muscles in individuals diagnosed with SMA. SMA exhibits a range of phenotypes spanning from type 0 (congenital) to type IV (adult), with varying physical abilities and biological functions between and within SMA types. The treatment of SMA has been currently approved for molecular and genetic interventions, as the etiology of SMA stems from a loss in the SMN1 gene and low SMN2 copy numbers, both of which produce a lack of the SMN protein that is vital for motor neuron function. Stem cells, or cells that are capable of proliferation and differentiation, are currently being assessed in the treatment of many diseases, including motor neuron diseases such as SMA. The animal studies showed promising results for the possible improvement of SMA symptoms, however there is little conclusive research in this area on humans thus far. One novel program is being conducted in Thailand that shows results, however, there needs to be much more research to fully understand how effective stem cells can be either on their own or in combination with established therapies in the treatment of spinal muscular atrophy.