Understanding the Molecular Mechanisms of a Gene Could Be Key For New Treatments
As often recognized in autism research, there are currently no pharmacological treatments approved by the U.S. Food and Drug Administration to treat the core symptoms of the disorder. Given this sobering fact, new research from an international team of scientists that focuses on genomics as a vehicle for precision medicine has become especially intriguing. The authors of this study used the emerging science surrounding identifying and addressing modifiable genetic contributing factors to support a genomically targeted medicine strategy. The team focused on the SHANK3 gene as the genomic target since it had the highest odds ratio for mutations in the study’s participants, all of whom had autism. Once the researchers identified their genomic target, they had to understand the molecular function of the SHANK3 gene and then determine how the variant (mutation) changed the gene’s function. The next step for the team was to figure out a way to regulate the effects of the SHANK3 gene variant. The final step was to find interventions that could support and improve symptoms that the variant causes. Just as there are no targeted pharmaceutical interventions for children with autism, similarly, there are no drugs available to treat kids with SHANK3 variants. Therefore, the children in this study were given treatments that are generally regarded as safe (GRAS) to target the underlying identified genomic factors. These treatments included natural products, vitamins, lifestyle modifications, and dietary changes. For example, the study’s patient number one was shown to have a high IgG response to dairy, gluten, and egg. The participant was put on an elimination diet which took away the offending foods. After several nutritional deficiencies were identified in patient one, he was given supplements such as iron, vitamin B6, vitamin B12, methylfolate, and vitamin D to address the deficiencies. Additionally, N-acetylcysteine was also added to the supplement list, due to the subject’s low glutathione levels. Furthermore, gut testing of patient one revealed that he had markers of poor absorption and high lactoferrin levels, which can indicate intestinal inflammation. After going through these treatments, patient one, as well as the other participants involved in this study improved after using the GRAS treatments. The main finding of this study shows that when clinicians understand their patients on a molecular level, better outcomes through treatment can be achieved for patients with autism. In the future, they hope their approach will help bring precision medicine to the forefront for treating the disorder.
