Spinal Muscular Atrophy (SMA) affects more than 1,000 children and infants in Canada alone. The genetic condition causes muscle weakness, poor muscle control and, in severe cases, can shorten life expectancy to five years of age or less.
A missing gene is responsible for the genetic condition but a copy gene, similar to the missing gene, remains inactive in sufferers of SMA. According to researchers, activating the copy gene could effectively treat SMA. This has made activation of the copy gene a priority for researchers all over the world. Despite the scores of research, however, little progress had been made in finding the key to activating the copy gene – until now.
A recent study conducted by the researchers at the Children’s Hospital of Eastern Ontario Research Institute in Ottawa may be able to offer hope to families affected by SMA . Mice, genetically altered to have spinal muscular atrophy, were given Prolactin, the pregnancy hormone. Observation revealed that Prolactin provided the strongest copy gene activation to date.
Researchers reported in the Journal of Clinical Investigation that the copy gene was not only activated, it also improved the life expectancy of the mice by 60% if given over time. Improved motor control was also noted during the study. According to PhD student Faraz Farooq, “It’s the biggest increase anyone has seen yet in the SMA Field with any potential therapeutic compound. This represents a significant advance in search for a therapy for this disease.”
Prolactin has already been used in clinical trials for unrelated studies, possibly making the process between pre-clinical validation and actual clinical trials rather short. As a result, treatment with Prolactin could be a possibility in the near future for families already affected by spinal muscular atrophy, which is probably almost as exciting as the ground-breaking discovery itself.
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