Researchers found a new genetic driver of autism
Kobe University's Professor TAKUMI Toru (also a Senior Visiting Scientist at RIKEN Center for Biosystems Dynamics Research) and Assistant Professor TAMADA Kota, both of the Physiology Division in the Graduate School of Medicine have discovered a gene called the Necdin or NDN in autism model rat that has the chromosomal abnormality named copy number variation.
The researchers hope to comprehend the mechanism of this gene to lead them towards the creation of new treatment strategies for developmental disorders including autism.
In 15q dup mice, there are a great number of genes as the duplication extends to the 6Mb region. Previous research showed that behavioral abnormalities were not induced by maternally derived chromosomal duplication, therefore around 2Mb was eliminated. As for the remaining 4Mb, the researchers first created a new 1.5Mb duplication mouse model and investigated behavior abnormalities. From the results, they were unable to identify any autism-like behavioral abnormalities in 1.5Mb duplication mice. Thus, the researchers excluded this 1.5Mb, leaving them with three protein-encoding genes as possible candidates.
Next step these 3 genes were separately inserted in the cerebral cortex of a mouse via electroporation the researchers measured the spine turnover rate inside the body discovering that after introducing NDN the numbers of spines dramatically increased. Moreover, the morphology classification of these spines indicated that the majority were immature. This reveals that the NDN gene controls the formation and maturation of dendritic spines during the developmental stage.
This research has revealed that in 15q autism model mice the NDN plays an important role in autism-like behaviors and also has an effect on aspects like inhibition imbalance in synaptic dynamics and cerebral cortex. Next, the research team has hopefully clarified what the NDN gene does and by regulating these functions they hope to have a better understanding of the onset mechanism of developmental disorders like autism and establish new treatment strategies.