Researcher U. Mayor describes gene associated with autism and regulating the formation of the cerebral cortex
01-14-2020
01-14-2020
The research, led by Dr. Gonzalo Cancino of the CIB, was published in the prestigious Cell Reports Magazine.
They were approximately 4 years of work, since the idea was conceptualized until it was finally published in the Cell Reports Magazine, led by Dr. Gonzalo Cancino, principal investigator of the Center for Integrative Biology at the Universidad Mayor. The research was carried out by members of Dr. Cancino's laboratory; the postdoctoral researcher Dr. Francisca Cornejo and the doctoral student Begoña Aranda, in collaboration with researchers from the United States and Canada.
"In this work we describe how a gene that is mutated in some patients with autism is important for the formation of the cerebral cortex, demonstrating that the absence of this gene causes an excess of neurons," explains Dr. Gonzalo Cancino. “We might think that having more neurons can be something super good, maybe being smarter. However, the opposite may occur. The cerebral cortex has a defined number of neurons, and these are distributed in a very organized way. If a person has more neurons, it can happen that the connection between the different regions of the brain is altered, affecting how we feel, how we understand our environment, our ability to express ourselves, etc ”.
In order to carry out the study, a generically modified mouse was used, which does not express PTPRD, a gene that has been associated with autism spectrum disorder. Then, they measured how cortical precursors, which are stem or stem cells, are transformed into neurons. And what they discovered is that in the mouse that does not express this gene, there are more stem cells and more neurons, which can explain the behavioral alterations that patients with autism have these mutations.
“The stem cells are responsible for giving rise to all the cells in our body. In the case of the mouse that does not express the gene associated with autism PTPRD, there are more stem cells in the brain, which generate an excess of neurons, something that is abnormal and harmful, ”explains Dr. Gonzalo Cancino.
The researcher at the Center for Integrative Biology at the Universidad Mayor explains that it is very important to study autism because its causes are unknown, there are no effective treatments and it is a nervous system disorder with a high prevalence in the population. Although we do not have this information in Chile, in countries like the United States, almost 2% of the population has been diagnosed with autism: a high percentage of importance at the public health level.
“This research allows us to explain to a person who has this mutation how it could be affected in his brain, which is not minor, since many patients and relatives find it reassuring to understand the causes of their diagnosis. On the other hand, understanding what is generated by this mutation will allow us in the future to develop more specific therapies for patients who have this mutated gene, ”concludes Cancino.
