Researchers uncover distinct transcriptional changes in brain with Huntington’s disease

Photo via: MS Research Australia

For patients with Huntington’s disease (HD), an inherited condition causing a progressive breakdown of nerve cells in the brain, a lack of effective therapies or treatment for symptoms has paved the way for the publication of numerous studies.

In a new report, published in BMC Medical Genomics, a group of researchers at Boston University School of Medicine unveiled what is perhaps the most detailed analysis of the active disease process in the area of the brain associated with Huntington’s disease.

For the study, post-mortem brain samples from the striatum were taken and examined from two mutant gene positive participants with Huntington’s disease. Researchers compared the gene expression patterns between the striatum and the prefrontal cortex.

Using high throughput sequencing technology, the samples from the striatum and the prefrontal cortex region of the brain were put under transcriptomic profiling. During comparisons of brain regions, any alterations would be identifiable through the analyzation of sequencing data.

Adam Labadorf, the study’s co-author, stated: “The caudate nucleus in HD brain is dramatically affected prior to symptom onset. Substantial caudate-specific differences implicate many different biological pathways including metabolism, protein folding, inflammation, and neurogenic processes.”

“While these results are at best trends due to small sample sizes, these results nonetheless provide the most detailed insight to date into the primary HD disease process.”

“This study presents the most detailed analysis to date of the active disease process in the primarily affected brain region of HD, and although these results do not directly suggest any novel therapies, a better understanding of these processes is likely to lead to them.”