Researchers have found a direct link between certain genes and certain areas of the brain that are responsible for specific functions, such as memory, movement or even addictive behavior.
Personalized treatments for neurological conditions, such as Alzheimer’s or Parkinson’s. Photo: Ahiva
Through an exhaustive genetic analysis of brain structure, scientists have identified 254 genetic variants that play a critical role in the development and function of key brain regions. This groundbreaking discovery opens up new perspectives in understanding and treating a wide range of neurological conditions, from neurodegenerative diseases such as Alzheimer’s and Parkinson’s to psychiatric disorders such as schizophrenia and bipolar disorder, thus offering hope for more personalized and effective therapies in the future.
Researchers from the University of Southern California and the Queensland Institute of Medical Research have identified hundreds of genetic variants that influence a wide range of brain functions, from memory and learning to emotions and behavior, in an international study. This fundamental discovery brings us closer to a deeper understanding of how our genes shape who we are. These findings were published in the journal Nature Genetics.
With support from the USC Keck School of Medicine, the ENIGMA consortium coordinates the efforts of more than 1,000 laboratories worldwide to identify genetic variations that influence the brain.
“A lot of brain diseases are known to be partly genetic, but from a scientific point of view, we want to find the specific changes in the genetic code that cause them”, A avowed Paul M. Thompson, director of USC’s Mark and Mary Stevens Institute for Neuroimaging and Informatics and principal investigator for ENIGMA.
He also added: “By conducting this research around the world, we are beginning to approach what has been called the ‘genetic essence of humanity.’
Identifying structural differences in the brain between groups of people with different neurological conditions and control groups allows scientists to discover which regions of the brain are specifically affected by certain diseases and thus better understand their causes.
By identifying the genes involved, we can better understand the biological mechanisms that underlie normal brain development and function, as well as how these mechanisms are affected in disease.
The study involved the collection of DNA and high-resolution MRI images from a cohort of nearly 75,000 individuals, with a focus on detailed volume analysis of different deep brain regions.
Using a powerful statistical method known as GWAS, the researchers discovered specific genes associated with differences in the size of certain brain structures. Interestingly, some of these genes have been linked to a higher risk of developing Parkinson’s disease and ADHD.
Miguel Rentería, associate professor of computational neurogenomics at the Queensland Institute of Medical Research (QIMR Berghofer) in Australia and principal investigator of the Nature Genetics study said: “There is strong evidence that ADHD and Parkinson’s have a biological basis, and this research is a necessary step toward understanding and possibly treating these conditions more effectively. Our findings suggest that genetic influences underlying individual differences in brain structure may be fundamental to understanding the underlying causes of brain-related disorders.”
The study investigated in detail the volume of key deep brain structures such as the brainstem, hippocampus, amygdala, thalamus, nucleus accumbens, putamen, caudate nucleus, globus pallidus and ventral diencephalon.
The analyzed subcortical structures are essential for a wide range of brain functions, from the formation of memories and the processing of emotions, to the control of movement and the response to environmental stimuli. The GWAS identified 254 genetic variants associated with brain volume in these regions, explaining up to 10% of the observed differences in brain volume between study participants.
While previous studies have emphasized the role of certain brain regions in diseases such as Parkinson’s, this new research makes a significant contribution by identifying specific genetic variants that influence the size and shape of these regions, thus providing a stronger genetic basis for understanding these diseases.
“This work, for the first time, pinpoints where these genes act in the brain”providing information for future interventions, said Thompson, who is also a professor of ophthalmology, pediatrics, neurology, psychiatry and behavioral sciences, radiology, biomedical engineering and electrical engineering at the Keck School of Medicine.
The researchers point out that while the study results are promising, they only indicate a correlation between genes and brain volume, not a causal relationship. Further studies are needed to confirm whether these genes play a direct role in disease occurrence.
