Spinal muscular atrophy (SMA) is a recessive disease caused by a genetic defect in the SMN1 gene. It manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. There is no known cure.
Symptoms, which are usually found in children between birth and six months, include generalised muscle weakness, a weak cry, and trouble breathing, swallowing and sucking.
Although classified as rare (1 in every 6,000 to 10,000 births is affected by SMA), it is the leading genetic killer of infants and toddlers, with approximately 95% of the most severely diagnosed cases resulting in death by the age of 18 months. Children with a less severe form of SMA face the prospect of progressive muscle wasting, loss of mobility and motor function.
Following recent in vitro and animal modelling studies, the majority of emerging therapies focus on increasing the availability of SMN protein to motor neurons. Nonetheless, the SMN1 gene defect is found in every cell in the body and multiple organs are affected, indicating that therapies targeting all organs would be preferable.
GCU researcher Dr Gillian Hunter aims to investigate novel pathways downstream of the SMN1 gene that are altered in, not just motor neuron cells, but other parts of the body including the lungs, the respiratory system and heart.
Identification of novel genes altered in all tissues affected by SMA will provide targets for alternative therapeutics that could be used in combination with the emerging therapies currently under clinical trial.
The year-long research project is being funded by Tenovus Scotland, which supports innovative medical research projects.
Dr Hunter said: “Children with SMA will always have the gene defect, but what I am looking for are complimentary therapeutics which ease the devastating symptoms of this disease and help improve quality of life.”