Study: Diseases of the Brain are Best Classified Based on Analyzing Gene Activity

According to a recent study from McGill University in Canada, the new method for classification of brain illnesses has been identified. This study was led by Yashar Zeighami and compared the transcriptomes of various brain diseases. The transcriptome is a chart of activity for all of the genes in the genome, and the researchers found that it could be useful for understanding the underlying mechanisms of action in these diseases, as well as explaining why some occur alongside one another.

The approach could be a new technique for detecting relationships among different disorders, which would have implications for treatment approaches. As many diseases of the brain have a diversity of environmental and genetic risk factors, they can be difficult to classify; many of the signs and symptoms overlap between conditions as well. This can make misdiagnosis a significant problem, which can have drastic impacts on treatment outcomes.

The study looked at a total of 40 different brain disease transcriptomes. Using this approach, the team was able to categorize the diseases into five distinct groups. The analysis also found disease relationships that were previously unknown. for instance, temporal lobe epilepsy, obsessive-compulsive disorder, and language development disorders were all placed in the same group despite having much different symptoms. However, the genes associated with these diseases are active in the same brain regions and in the same types of cells.

Brain graphic illustrating anatomic patterning of classes ADG 1–5 (5 primary anatomic disease groups).
Image credit: Zeighami Y, et al., 2023, PLOS Biology,
CC-BY 4.0
license: https://creativecommons.org/licenses/by/4.0/

The overlap in disease symptoms, as well as how they change over time, makes brain diseases challenging to diagnose, but the scientists see the transcriptome as a new tool that could facilitate earlier and more accurate diagnosis. 

“Analysis of the transcription patterns of risk genes for human brain disease reveals characteristic expression signatures across brain anatomy. These can be used to compare and aggregate diseases, providing associations that often differ from conventional phenotypic classification.” – Yashar Zeighami

Find the original study here

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