2023-06-14 11:14:48
Minibrains reproduced in the laboratories of the University of Pisa thanks to reprogrammed stem cells. This is the completely innovative experimental set that has made it possible to study a particular gene, WDR62, whose mutations represent the second most common cause of microcephaly, a serious pathology that emerges during prenatal life and which involves a failure to develop the human brain. The research, published in the journal ‘eLife’, was conducted by Marco Onorati and Claudia Dell’Amico of the Biology Department of the University of Pisa in collaboration with Angeliki Louvi of the Yale School of Medicine.
The discovery of the researchers is that the mutation of the WDR62 gene would be responsible for the early differentiation and the reduced ability of stem cells to divide, explaining the peculiar symptom of microcephaly, or the reduced development of the nervous system. “We have used an innovative system of pluripotent stem cells reprogrammed starting from skin cells – explains Onorati, director of the NeuroStemCell Lab of the University of Pisa -. These reprogrammed cells can be differentiated towards all cell types of our body, including neurons of the our brain and then be used to generate human cerebral organoids. In this way, we have created a study model that allows us to recapitulate early events in the development of our brain, and its dysfunctions, in vitro, which would otherwise not be easily observable”.
“By means of the CRISPR/Cas9 technique, which allows to precisely repair the sequence of a gene, using ‘molecular scissors’, we corrected the mutation in vitro”, adds Claudia Dell’Amico, first author of the study. “This allowed to apply gene therapy and treat organoids, paving the way for future developments in gene therapy”. The research group led by Elena Cattaneo of the University of Milan and Maria Teresa Dell’Anno of the Pisana Foundation took part in the study science.
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