A study entitled “The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice” examined the effect of maternal diet in the gene SMN2 inducer in mice models with spinal muscular atrophy.
The study was published in the journal Experimental Neurology.
Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder that progressively leads to muscular atrophy. SMA is the leading genetic cause of death in infancy and early childhood. The disease is characterized by the loss of motor neurons of the anterior horn of the spinal cord. A mutation in the gene SMN is the cause of SMA and SMN comprises the SMN1 and SMN2 genes. Studies have found that in human SMA, the gene SMN1 is lost, however, SMN2 is maintained, and the number of SMN2 copies has been found to be associated with symptom severity in SMA.
Studies in mice models of SMA found that an SMN2 inducer called D156844 is related to survival and improvement of the SMA phenotype. At the moment there is no cure for SMA and available therapeutics are still under research. Most of the compounds under investigation include inducers of SMN2, involving drugs from the family of quinazolines.
The team of researchers from Ohio Sate University thought that a maternal diet called PicoLab20 could have a protective effect on the D156844 in mice models. In this regard, they examined the effect of this compound in SMA mice models.
The results showed that the PicoLab 20 diet had a protective effect in the D156844 SMN2 in mice, as it increased survival in 21%. Moreover, the researchers found that this protective effect was additive. In mice models exposed to the diet, brain levels were higher than in those on another diet (called Harlan-Teklad 22/5). Furthermore, results from this study revealed that the levels of SMN protein in the spinal cord were higher in the mice under treatment diet with the D156844.
Findings from this study are encouraging, and showed that maternal diet potential therapeutic option for SMA, based on the activation of the SMN2 inducer compound. Diet also augmented the effect of D156844 on the onset of the end-stage of disease in the mice—as measured by the onset to the loss of body mass.