Researchers have identified a specific gene that may explain the changes in brain structure seen in people with various psychiatric illnesses. A pathway to new treatments.
Mental disorders are generally characterized by an abnormal pattern of thoughts, perceptions, emotions, behaviors and relationships with others, according to the WHO. Among these diseases, the organization list depression (300 million people of all ages worldwide), bipolar affective disorder (60 million), schizophrenia (21 million), other psychoses such as dementia (47.5 million), intellectual disability and developmental disorders, including autism (1 in 100 births).
And if an illness like depression can only correspond to a particularly difficult episode in life, many mental disorders have their origins in genetics. Recently, scientists have identified a specific gene that could explain the changes in brain structure observed in people with various psychiatric illnesses. This discovery, published in early August in the journal NatureCommunicationsprovides a new explanation for the potential cause of mental disorders and could ultimately lead to new, more effective treatments.
There are several genetic changes that can alter the risk of mental disorders. Among them is the Copy Number Variants (CNV), a place where DNA is deleted from one of the pairs of chromosomes. Here, researchers from the Institute for Neuroscience and Mental Health Research at the University of Cardiff (Wales) focused on deleting the specific CYFIP1 gene, located in a specific location on chromosome 15, known as the name of 15q11.2. They had already identified it in the past as an area linked to biological abnormalities associated with mental disorders.
“CYFIP1 is a key player”
By working on mice, the researchers were able to demonstrate that the absence of CYFIP1 was linked to abnormalities in myelin, an insulating layer that forms around the nerves in the brain, essential for rapid and harmonious communication between the different areas. cerebral. They were able to trace these abnormalities back to specific brain cells called oligodendrocytes. These are responsible for the production of myelin sheaths.
“We know that the risk of suffering from a psychiatric illness is influenced by many factors related to the physical and social environment as well as our genetics (…) What surprised us the most was the measurement in which the suppression effects of 15q11.2 could be explained by a single gene effect”, comments Ana Silva, lead author of the paper and in charge of the study.
“We believe that CYFIP1 is a key player in the detrimental effects of 15q11.2 deletion and because we know what kind of brain functions this gene is involved in, we can use this knowledge to improve our understanding of psychiatric disorders and potentially find new, more effective treatments,” she enthuses.
Understand the mechanism at play in order to correct it
“The challenge now is to make biological sense of genetics to help us understand disease pathology and design better treatments,” said study co-author Professor Lawrence Wilkinson. “Our work with CYFIP1 is an example of how genetic insights can guide research into the biological mechanisms underlying dysfunctions,” he continues.
Armed with these findings, scientists are now looking for myelin abnormalities in people with 15q11.2 deletion using their Institute’s state-of-the-art facilities. They also want to understand the precise mechanism at play in order to fix it.
A few days ago, other researchers made headlines by announcing that they had discovered differences between brains people from families with a history of schizophrenia or bipolar disorder. According to their study, relatives of patients with bipolar disorder had larger intercranial volumes, while relatives of schizophrenics had smaller brain volumes compared to participants from families with no history of mental disorders. “Our results suggest that familial risk for these disorders influences brain development early in life, and in a different way,” they explained.
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