Healthcare (Commonwealth Union) – Neurological conditions affect millions of people worldwide, impacting not only individuals’ daily lives but also their families, communities, and healthcare systems. These disorders encompass a wide range of diseases, injuries, and malfunctions that affect the brain, spinal cord, and nervous system. Understanding neurological conditions is crucial for early diagnosis, effective treatment, and, in some cases, prevention.
Pioneering research conducted by scientists at QIMR Berghofer has identified hundreds of genetic variants linked to brain size, many of which are also present in individuals with neurological conditions like Parkinson’s disease and attention deficit hyperactivity disorder (ADHD).
Published in the esteemed journal Nature Genetics, this study marks the largest global exploration of how genetic variations affect the structures of the brain’s deeper regions, offering valuable insights into the complex connection between genetics and brain health.
According to QIMR Berghofer’s Associate Professor Miguel Rentería, the research reveals that certain genetic variants impacting brain structure also play a role in the risk of developing conditions such as ADHD and Parkinson’s.
“There is strong evidence that ADHD and Parkinson’s has a biological basis, and this research is a necessary step to understanding and eventually treating these conditions more effectively,” he added.
An international team of 189 researchers, led by Associate Professor Rentería and PhD candidate Luis García-Marín, analyzed DNA data and brain MRI scans from 76,000 participants across 19 countries to conduct the study.
The team identified 254 genetic variants that affect brain structure size and explored whether some of these variants are also connected to the risk of developmental, psychiatric, and neurological disorders.
Associate Professor Rentería indicated that genetic variants linked to larger brain volumes in certain key regions are associated with an increased risk of Parkinson’s disease, while those tied to smaller brain volumes are connected to a higher risk of ADHD. However, these findings are correlations, not direct causes, so they should be interpreted with care.
“These findings suggest that genetic influences that underpin individual differences in brain structure may be fundamental to understanding the underlying causes of brain-related disorders.”
Mr García-Marín stated that the research advances the knowledge of the brain’s development, variability, as well as the evolution.
“It brings us closer to answering key questions about how genetics influence brain structure, and how we can potentially treat these conditions in future,” he explained.
The genetic influences on brain structure were found to be consistent across individuals of European, African, and Asian ancestry, emphasizing the global significance of genetic factors in brain development and function.
The research concentrated on subcortical brain structures, such as the hippocampus, amygdala, thalamus, caudate nucleus, nucleus accumbens, putamen, and globus pallidus. These regions are essential for functions like memory formation, emotional regulation, motor control, sensory processing, and how we respond to rewards and punishments.
The study utilized imaging and genetic data from global consortia, including ENIGMA (Enhancing Neuro Imaging Genetics through Meta-Analysis), a large international initiative based at the Keck School of Medicine of USC that brings together more than 1,000 research labs across 45 countries to identify genetic variations affecting brain structure and function. Other sources included CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology), the UK Biobank, and the ABCD (Adolescent Brain Cognitive Development) study.
Professor Paul M. Thompson, the lead investigator of ENIGMA and associate director of the USC Mark and Mary Stevens Neuroimaging and Informatics Institute, emphasized the importance of these findings. He pointed out that by carrying out this research across the globe, they are starting to uncover what has been described as the ‘genetic essence of humanity,’.
