Researchers identify genetic link between brain volume and disorder

In one of the largest studies ever of DNA and brain volume, researchers identified 254 genes that form key structures in the “deep brain,” including structures that control memory, motor skills, addictive behaviors, and more. The mutation was identified. The results of this study have just been published in the journal natural genetics.

This research is being facilitated by the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium, an international effort based at the USC Keck School of Medicine. The consortium brings together more than 1,000 laboratories in 45 countries to explore genetic variations that affect the brain. Brain structure and function.

It is known that many brain diseases are partly genetic, and from a scientific perspective we want to find the specific changes in genetic information that cause them. ”

Dr. Paul M. Thompson, Deputy Director, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, ENIGMA Principal Investigator

“By conducting this research around the world, we are beginning to focus on what we call the 'genetic essence of humanity,'” he said.

Identifying brain regions that are larger or smaller in some groups (for example, people with certain brain diseases) compared to others can help scientists begin to understand the causes of brain dysfunction . Discovering the genes that control the development of these brain regions will provide further clues about how to intervene.

For the study, a team of 189 researchers from around the world, partially funded by the National Institutes of Health, collected DNA samples and magnetic resonance imaging brain scans to identify key subcortical areas. The volume was measured. Also known as the “deep brain” -; from 74,898 participants. We then conducted genome-wide association studies (GWAS), an approach that can identify genetic variations associated with a variety of traits and diseases, including some that increase risk for Parkinson's disease and attention-deficit/hyperactivity disorder (ADHD). discovered a relationship between genes and brain volume. ).

“There is strong evidence that ADHD and Parkinson's disease have a biological basis and this study is a necessary step to understanding and ultimately treating these symptoms more effectively.”Queensland said Dr. Miguel Renteria, associate professor of computational neurogenomics at the School of Medicine. Principal investigator of the Australian study (QIMR Berghofer) and the Nature Genetics study.

“Our findings suggest that the genetic influences that underpin individual differences in brain structure may provide a basis for understanding the underlying causes of brain-related disorders,” he said. Ta.

studying the deep brain

The researchers analyzed brain volumes in key subcortical structures, including the brainstem, hippocampus, amygdala, thalamus, nucleus accumbens, putamen, caudate nucleus, globus pallidus, and ventral diencephalon. These areas are important for forming memories, regulating emotions, controlling movement, processing sensory data from the outside world, and responding to rewards and punishments.

GWAS revealed 254 genetic variations associated with brain volume across these regions, explaining up to 10% of the observed differences in brain volume between study participants. Previous research has found links between specific regions and diseases, such as the basal ganglia and Parkinson's disease, but this study aims to determine which genetic mutations more precisely shape brain volume. has become clear.

Professor Thompson, who is also a professor of ophthalmology, pediatrics and neurology, said: “This paper pinpoints for the first time exactly where these genes act in the brain, and could be the beginning of a roadmap for where to intervene.” He said he provided it. psychiatry and behavioral science, Radiologymajored in biomedical engineering and electrical engineering at the Keck School of Medicine.

The researchers note that because the study is correlational, more research is needed to link genes to different diseases.

From Renteria's group, doctoral candidate Luis Garcia-Marin and postdoctoral fellow Dr. Adrian Campos were the first authors of the study. In addition to data from ENIGMA, researchers also used data from the Heart and Aging Research Cohort in Genomic Epidemiology (CHARGE), UK Biobank, and the Adolescent Brain and Cognitive Development (ABCD) study. Researchers can download summary statistics from the ENIGMA consortium.