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The research group led by Pernette Verschure (UvA-SILS), together with researchers from the Amsterdam Medical Center and Leiden University Medical Center, has gained new insights into the development of Huntington’s disease. The findings demonstrate a time-resolved relationship between changes in gene-activity and the aggregation of mutant huntingtin protein during early stages of the disease. The results were published in BMC Genomics.

Temporal causal relationship largely unknown

Huntington’s disease is a neurodegenerative disorder that manifests in behavioral and cognitive changes and uncoordinated body movements. Aggregate formation of mutant huntingtin protein in the brain is a typical hallmark of the disease. The presence of brain aggregates is known to be associated with changes in gene activity, but the temporal causal relationship between aggregate formation and altered brain functioning at early stages of the disease is largely unknown.

New resource for understanding key regulators

The findings of this study provide a new resource for understanding key regulators in the progression of the early stages of Huntington’s disease and possibly other diseases that entail a similar tri-nucleotide repeat mechanism. The researchers used an inducible Huntington’s disease cell system to determine time-resolved genome-wide gene activity changes and aggregate formation during early phases of the disease’s development. Two major gene clusters were identified showing involvement of metabolic and developmental processes, implying general defects in cellular homeostasis.