In a landmark discovery, scientists have identified 254 genetic variants that influence the size of subcortical brain structures, areas critical for functions like motor control, emotion, attention, and learning. This research, led by neuroscientist Paul M. Thompson of the University of Southern California (USC), reveals how these genetic variations may contribute to the development of neurological disorders, including Parkinson’s disease, schizophrenia, and ADHD. The findings hold promise for improving treatments for brain-related conditions.
The study represents a major international collaboration involving 189 researchers who analyzed genetic data from 74,898 individuals across 19 countries. The research team relied on MRI scans to measure volumes of subcortical regions, including the amygdala, hippocampus, brainstem, thalamus, and putamen. Using a technique known as a genome-wide association study (GWAS), the team was able to correlate genetic variations with differences in brain volume. The study’s scale and depth make it the largest GWAS meta-analysis of brain volumes conducted to date.
“A lot of brain diseases are known to have genetic origins,” explains Thompson, who also leads the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium, an international network based at USC’s Keck School of Medicine. “But scientifically, we want to pinpoint specific genetic changes causing these variations in brain structure and function.”
Among the findings, the study identified significant correlations between eight subcortical brain volumes and Parkinson’s disease, as well as three volumes linked to ADHD. Insights like these could be transformative in developing more effective therapies, according to Miguel Rentería, associate professor of computational neurogenomics and principal investigator of the study. “Our findings suggest that genetic influences on brain structure are fundamental to understanding the causes of neurological disorders,” Rentería said.
The study builds on existing research connecting specific disorders to subcortical structures, like the basal ganglia’s link with Parkinson’s disease. However, it adds new depth, revealing how genetic variants directly influence the development of subcortical regions, which in turn could be associated with the risk of brain-related conditions.
Further research is needed to understand precisely how these genetic variations contribute to brain disorders, the researchers caution. But by mapping where these genetic influences act in the brain, this study provides crucial clues that may lead to breakthroughs in understanding the origins of neurological conditions.
“This paper, for the first time, pinpoints exactly where these genes act in the brain,” said Thompson, signaling a new chapter in research that could redefine our approach to treating brain disorders in the future.
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