May 19, 2024

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Nature: A New Link Between Genes and Autism

Nature: A New Link Between Genes and Autism


Nature: A New Link Between Genes and Autism.  Every year, April 2 is designated as “World Autism Awareness Day”.


In December 2007, the United Nations General Assembly passed a resolution. Since 2008, April 2 will be designated as the “World Autism Awareness Day” to increase people’s awareness of autism and related research and diagnosis, and autism patients. attention. April 2 this year is the 14th “World Autism Awareness Day”.


All children live under the same sky, but not all children have innocent smiles on their faces. In human society, there is such a special group of children who are not deaf, but they are deaf to their voices; they are not blind, but they are blind to people and things around them; they are not dumb, but they don’t know how to speak.


Childhood autism is a type of developmental disorders characterized by severe loneliness, lack of emotional response, language development disorders, and stereotyped repetitive actions. Children with autism are just like ordinary people in appearance, but they seem to be separated by an invisible wall so that people cannot touch their hearts.


At present, more than 70 million people worldwide suffer from autism, but unfortunately, the current treatment methods for autism are very limited, and the fundamental challenge in developing treatments for autism is the heterogeneity of the condition.

At present, more than one hundred gene mutations have been found to confer a high risk of autism. Therefore, each mutation accounts for only a small part of the cases. These mutations involve multiple pathways such as protein highlighting, translation regulation, chromatin modification, and so on. Early detection, early treatment, and early intervention are the only options.


In October 2020, researchers from the Biological Center of the University of Basel in Switzerland published a research paper entitled “Rescue of oxytocin response and social behaviour in a mouse model of autism” in the top international academic journal Nature.


The study found a new link between genes and autism-mutations in the neuroligin-3 gene can reduce the effects of oxytocin. At the same time, the researchers also reported a treatment method that can normalize the social behavior of autistic patients, and achieved certain results in animal models.


Nature: A New Link Between Genes and Autism


Statistics show that people with autism account for about 1% of the human population. From a genetic point of view, there are many genetic factors that are related to the occurrence and development of autism. At present, hundreds of different autism-related genes have been identified, including the glialin-3 gene.


Neurokeratin-3, a specific brain neuron membrane protein, is necessary for synapse maturation and normal brain function. From this point of view, the mutation of this gene is very likely to cause disorders of certain brain functions. However, previous studies on the mechanism of glialin-3 gene mutations associated with autism symptoms are very scarce.


In this study, the research team led by Professor Peter Scheiffele discovered the connection between glialin-3 and the oxytocin signaling pathway in a mouse model. It is worth noting that oxytocin is a hormone secreted by the neurohypophysis, which can regulate the social behavior of mammals, especially social interaction.



These mouse models carry specific genetic mutations and exhibit typical behaviors associated with human autism. Therefore, these mice are used as a model system to study autism and help scientists recognize human autism.


The researchers found that the glialin-3 gene mutation disrupted the oxytocin signaling pathway in the neurons of the reward system of the mouse brain, thereby reducing the social interaction between the mice.


Further research found that the lack of glialin-3 affected the balance of protein synthesis in these dopaminergic neurons, thereby affecting the neuronal response to oxytocin.


Professor Scheiffele said, “Although some people speculated that the signaling pathway mediated by oxytocin may play a role in autism, this time, we were very surprised to find that the mutation of glialin 3 would damage the oxytocin signaling pathway. We successfully put together two related mechanisms of autism!”


In addition, the research team used a new, highly specific and brain-permeable kinase inhibitor-ETC168 to treat glialin-3 knockout mice to restore the oxytocin signaling pathway.


The researchers found that this treatment restored the social behavior of the knockout mice—just like their healthy counterparts.


More importantly, the research team also obtained similar experimental results in another rodent model of autism, proving that this new drug can be more widely used in the treatment of autism.


All in all, this study puts gene mutations, oxytocin signaling pathways and autism together, revealing how multiple factors related to autism are interconnected. In addition, the results of the study may open up new ways for the treatment of autistic patients!




(source:internet, reference only)

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