Are we now one step closer to developing effective treatments for autism?
A new study by researchers in the University of California has found large amounts of mutated genes in the cytoplasm of neurons, which are thought to be linked to autism. This region of brain cells has not been studied particularly extensively before in relation to autism, and so finding such genes holds promise for the development of drug therapies to treat the disorder.
The lead investigator of this study, Dr Kelsey Martin of UCLA, said: “Our discovery will shed new light on how genetic mutations lead to autism.” He also stated that the roles of such genes in the cell must be fully understood before developing drugs to target them.
A gene of particular note was the Rbfox1 gene, which is important for regulating the way in which the cell makes new proteins. Earlier studies had already indicated the significance of this gene in relation to autism. DNA sequencing techniques showed that the Rbfox1 gene has distinct functions in both the nucleus and the cytoplasm. Whilst this gene allows nuclear genes to form multiple different proteins, it was also found to control more than 100 cytoplasmic genes, which were all responsible for cortical development, and when mutated, thought to lead to autism.
The discovery of these cytoplasmic genes with such a tendency to cause autism is significant because developing drug therapies is much easier if researchers know exactly which genes to target. The next step in this field of research will be to establish exactly how the Rbfox1 gene works to control these genes. This knowledge could possibly allow drugs to be developed to restore correct function of these cytoplasmic genes, and treat autism in people who already have the disorder.
Photo: Pixabay, JeongGuHyeok