Mapping the genetic frame of the brain


A large team of researchers has developed the most detailed model of the genetic landscape of the brain, which incorporates not only the genes that make it up, but also the regulatory genes responsible for controlling the speed of product synthesis or multiple genes, as well as data cell phones and other information related to the development of the brain throughout human life.

The project, which began in 2015, has invested more than $ 50 million in funding from the National Institute of Mental Health in the United States. More than a dozen research centers and dozens of specialists in cell biology, genetics and bioinformatics participated.

The research analyzed data from nearly 2,000 human brains that were assembled for decades. The results are published in a series of 11 papers collected in Science, Science Advances and Science Translational Medicine.

The extent of data collected on the activity of unique genes and regulatory networks that control them throughout development has allowed scientists to assess the risk of contracting diseases, such as schizophrenia or bipolar disorder, up to six times more accurately. than by the traditional analysis of known variants of genetic risk.

The researchers also found that these risk variants may influence the function of genes at a very early stage of development and throughout life, but also that they are more likely to manifest as symptoms, since they form different clusters or modules during development. the different stages of brain development.

The results also point out that the risk of developing many mental disorders, such as autism or schizophrenia, may vary over time. The healthy development of the brain and neurological function depends on precise regulation of gene expression, which varies substantially according to the region and type of cell in the human brain, according to the research.

Clarifying discoveries

The research found that differences in cell types present in 16 regions of the human brain during development may be a key factor in determining whether the genetic risk translates into a neuropsychiatric disorder.
Another finding of this multiple investigation is that the greater variation in cell types and gene expression activity occurs early in prenatal development, decreases in late pregnancy and early childhood, and begins to increase again in early adolescence

The researchers also noted that during these periods of greater change in brain development, risk-prone genes tend to form different networks or modules in certain areas of the brain.

Modules linked to autism tend to form early in the development of the brain, and those related to schizophrenia, as well as IQ and neuroticism (emotional instability), tend to form later in life.

This could explain why neuropsychiatric disorders, such as autism, appear in early childhood and schizophrenia in adulthood, say researchers. The analysis also shows how disease-linked genes are also expressed in specific cell types, which helps determine the extent and effect of genetic variations associated with the specific disease.


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