UC Irvine researchers found links that may provide therapeutic targets for neurological diseases
Source: UCI School of Medicine
UC Irvine researcher Wei Li, PhD, Grace B. Bell Endowed Chair and professor of bioinformatics in the Division of Computational Biomedicine and the Department of Biological Chemistry, and his team have identified a groundbreaking link between tandem repeat (TR) size variations in DNA and gene regulation in the human brain.
Scientists analyzed over 4,400 multi-omics samples and created the largest catalog of TR-associated molecular changes to date. These findings show that TR size variations influence brain gene expression and other molecular processes, potentially driving neurological disorders like Alzheimer's disease, ALS and schizophrenia.
The study, "Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain," was published recently in Nature Genetics.
Tandem repeats have been largely overlooked in genetic studies despite their significant role in brain disorders. By mapping how these repeats affect gene regulation, this study provides valuable insights into the molecular mechanisms underlying neurological and psychiatric diseases.
Li's lab sought to address the gap in understanding how TR size variations impact gene regulation in brain tissue. This is the first large-scale study to integrate multi-omics data and systematically connect TR size variations to molecular changes and brain-related diseases. Other researchers involved in the study include Drs. Leslie M. Thompson, Albert R. La Spada & Ya Cui from the UC Irvine School of Medicine.
Future work will focus on improving TR detection with long-read sequencing technologies, expanding the study to include more diverse brain regions, and exploring how these findings can inform precision medicine for brain disorders.
The TR catalog is publicly available through an interactive web portal, a major step forward in TR research that could inspire collaborations across the neuroscience and genetic research communities. This resource will also accelerate research and may pave the way for targeted treatments.
