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Roots of mental and neurodegenerative disorders found in fetal brain cell formation
Last reviewed: 27.07.2025
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The origins of some neuropsychiatric disorders, such as autism, bipolar disorder or depression, as well as some neurodegenerative diseases, such as Alzheimer's and Parkinson's, may lie very early in the development of the fetal brain. That is, earlier than previously thought, according to a study by the Institute for Research at the Hospital del Mar and Yale University, published in the journal Nature Communications.
The work focused “on finding the origins of mental illnesses in the earliest stages of fetal development, especially in brain stem cells,” explains Dr. Gabriel Santpere, a researcher in the Miguel Servet Program and coordinator of the Neurogenomics Research Group in the Biomedical Informatics Program of the Istituto Investigaciones Hospital del Mar, a collaborative group with the Pompeu Fabra University.
To do this, they used a list of almost 3,000 genes associated with neuropsychiatric diseases, neurodegenerative pathologies and cortical malformations, and modeled the effect of changing them on cells involved in brain development. The results show that many of these genes are already functioning early in fetal development in stem cells - the precursors that shape the brain, creating neurons and the structures that support them.
Achieving this was no easy task. This stage of brain development is very difficult to study. For this reason, the researchers pooled a wealth of data from human and mouse brains, as well as data from in vitro cell models.
As Dr. Nicola Micali, an associate researcher in Dr. Pasko Rakic's lab at Yale and co-leader of the study, notes, "Scientists typically study genes for mental illness in adults, but in this work we found that many of these genes are already active early in fetal brain development, and that changes in them can affect brain development and contribute to mental disorders later in life."
The study modeled specific regulatory networks for each cell type involved in brain development to see how activation or deactivation of the analyzed genes associated with different brain diseases affects progenitor cells at different stages. This allowed them to observe the importance of each gene in the development of disorders that cause different diseases. The list ranges from microcephaly and hydrocephalus to autism, depression, bipolar disorder, anorexia or schizophrenia, and also includes Alzheimer's and Parkinson's disease.
All these pathologies have been found to involve genes involved in the earliest phases of brain development, when neural stem cells are active. “We are covering a wide range of diseases that the brain can suffer from and studying how the genes involved in these conditions behave in neural stem cells,” adds Joel Mato-Blanco, a researcher at the Institute of Research at the Hospital del Mar.
At the same time, he points out that the work "identifies the time windows and cell types in which the action of these genes is most significant, indicating when and where to target the function of these genes."
Having this information "is useful for understanding the origins of diseases that affect the cerebral cortex, that is, how genetic changes are transformed into these pathologies," says Dr. Santpere.
Understanding these mechanisms and the role of each gene in each disease can help develop targeted therapies that target them, opening up opportunities for gene therapy and personalized treatment.